Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77296223C>T , CM000676.2:g.77296223C>T	GRCh38
NC_000014.8:g.77762566C>T , CM000676.1:g.77762566C>T	GRCh37
NC_000014.7:g.76832319C>T	NCBI36
NG_008897.1:g.29660G>A , LRG_844:g.29660G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.598G>A	ENSP00000451967.2:p.Gly200Ser
ENST00000557289.2:c.355G>A
ENST00000682247.1:c.1057G>A	ENSP00000507213.1:p.Gly353Ser
ENST00000682382.1:c.629G>A
ENST00000682395.1:n.786G>A
ENST00000682459.1:n.721G>A
ENST00000682467.1:c.1057G>A	ENSP00000508062.1:p.Gly353Ser
ENST00000682795.1:c.1057G>A	ENSP00000507574.1:p.Gly353Ser
ENST00000682895.1:n.773G>A
ENST00000682955.1:n.345G>A
ENST00000683188.1:c.583G>A
ENST00000683285.1:c.51G>A
ENST00000683300.1:c.160G>A	ENSP00000507630.1:p.Gly54Ser
ENST00000683328.1:c.110-4843G>A	ENSP00000508096.1:n.110-4843G>A
ENST00000683380.1:n.721G>A
ENST00000683721.1:n.81G>A
ENST00000683828.1:c.766G>A
ENST00000684259.1:n.908G>A
ENST00000684528.1:c.51G>A
ENST00000684549.1:n.608G>A
ENST00000684554.1:c.294G>A
ENST00000261534.9:c.1057G>A MANE Select	ENSP00000261534.4:p.Gly353Ser
ENST00000261534.8:c.1057G>A	ENSP00000261534.4:p.Gly353Ser
ENST00000452340.7:n.1080G>A
ENST00000554767.5:n.1843G>A
ENST00000557289.1:c.296G>A	ENSP00000451115.1:n.296G>A
ENST00000557675.5:n.147G>A
NM_013382.5:c.1057G>A , LRG_844t1:c.1057G>A	NP_037514.2:p.Gly353Ser
XM_011536675.1:c.1057G>A	XP_011534977.1:p.Gly353Ser
XM_011536676.1:c.724G>A	XP_011534978.1:p.Gly242Ser
XM_011536677.1:c.598G>A	XP_011534979.1:p.Gly200Ser
XM_011536678.1:c.1057G>A	XP_011534980.1:p.Gly353Ser
XM_011536679.1:c.151G>A	XP_011534981.1:p.Gly51Ser
XM_011536680.1:c.1057G>A	XP_011534982.1:p.Gly353Ser
XR_943416.1:n.1260G>A
XM_011536675.2:c.1057G>A	XP_011534977.1:p.Gly353Ser
XM_011536676.2:c.724G>A	XP_011534978.1:p.Gly242Ser
XM_011536677.3:c.598G>A	XP_011534979.1:p.Gly200Ser
XR_001750279.1:n.1257G>A
XR_001750282.1:n.1261G>A
XR_943416.3:n.1258G>A
NM_013382.6:c.1057G>A	NP_037514.2:p.Gly353Ser
NM_013382.7:c.1057G>A MANE Select	NP_037514.2:p.Gly353Ser