. Author manuscript; available in PMC: 2011 Jan 1.

Published in final edited form as: Hum Mutat. 2010 Jan;31(1):5–10. doi: 10.1002/humu.21129

TABLE 3.

Polymorphisms in the SMC1A gene

Exon	Nucleotide change^*	Codon change	Reference
10	c.1698G>A	Glu566Glu	NCBI
12	c.1986G>C	Lys662Asn	NCBI
12	c.1986G>A	Lys662Lys	This report
12	c.1993C>G	Arg665 Gly	NCBI
12	c.2052G>A	Glu684Glu	NCBI
12	c.2053C>G	Leu685Val	NCBI
25	c.3663C>G	Thr1221Thr	NCBI

Nucleotide numbering reflects cDNA numbering with +1 corresponding to the A of the ATG translation initiation codon in the reference sequence NM_006306.2, according to journal guidelines (www.hgvs.org/mutnomen). The initiation codon is codon 1.