Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154774650G>C , CM000685.2:g.154774650G>C	GRCh38
NC_000023.10:g.154002925G>C , CM000685.1:g.154002925G>C	GRCh37
NC_000023.9:g.153656119G>C	NCBI36
NG_009780.1:g.16895G>C , LRG_55:g.16895G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1084G>C	ENSP00000400542.2:p.Gly362Arg
ENST00000426673.6:c.*587G>C	ENSP00000407253.3:n.*587G>C
ENST00000484317.6:n.989G>C
ENST00000696575.1:c.1204G>C	ENSP00000512730.1:p.Gly402Arg
ENST00000696577.1:c.1204G>C	ENSP00000512731.1:p.Gly402Arg
ENST00000696578.1:c.*156G>C	ENSP00000512732.1:n.*156G>C
ENST00000696579.1:n.1306G>C
ENST00000696580.1:c.1117G>C	ENSP00000512733.1:p.Gly373Arg
ENST00000696581.1:c.*1178G>C	ENSP00000512734.1:n.*1178G>C
ENST00000696582.1:c.*410G>C	ENSP00000512735.1:n.*410G>C
ENST00000696583.1:c.1165G>C	ENSP00000512736.1:p.Gly389Arg
ENST00000696584.1:n.1728G>C
ENST00000696585.1:n.1847G>C
ENST00000696586.1:n.1621G>C
ENST00000696587.1:c.1084G>C	ENSP00000512737.1:p.Gly362Arg
ENST00000696588.1:c.595G>C	ENSP00000513251.1:p.Gly199Arg
ENST00000696589.1:n.979G>C
ENST00000696590.1:n.828G>C
ENST00000696591.1:n.553G>C
ENST00000696592.1:n.2083G>C
ENST00000696627.1:c.*30G>C	ENSP00000512764.1:n.*30G>C
ENST00000696628.1:c.1204G>C	ENSP00000512765.1:p.Gly402Arg
ENST00000369550.10:c.1204G>C MANE Select	ENSP00000358563.5:p.Gly402Arg
ENST00000369550.9:c.1204G>C	ENSP00000358563.5:p.Gly402Arg
ENST00000412124.5:c.462G>C
ENST00000426673.5:c.564G>C
ENST00000475966.1:n.693G>C
ENST00000481062.1:n.155G>C
ENST00000620277.4:c.1204G>C	ENSP00000478387.1:p.Gly402Arg
NM_001142463.2:c.1204G>C	NP_001135935.1:p.Gly402Arg
NM_001288747.1:c.1204G>C	NP_001275676.1:p.Gly402Arg
NM_001363.4:c.1204G>C	NP_001354.1:p.Gly402Arg
NR_110021.1:n.1905G>C
NR_110022.1:n.2024G>C
NR_110023.1:n.1798G>C
NM_001363.5:c.1204G>C MANE Select	NP_001354.1:p.Gly402Arg
NM_001142463.3:c.1204G>C	NP_001135935.1:p.Gly402Arg
NR_110021.2:n.1783G>C
NR_110022.2:n.1902G>C
NR_110023.2:n.1676G>C
NM_001288747.2:c.1204G>C	NP_001275676.1:p.Gly402Arg