Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142180T>A , CM000665.2:g.184142180T>A	GRCh38
NC_000003.11:g.183859968T>A , CM000665.1:g.183859968T>A	GRCh37
NC_000003.10:g.185342662T>A	NCBI36
NG_015826.1:g.12159T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1326-57T>A
ENST00000468748.7:n.1546-57T>A
ENST00000484154.2:n.1533-57T>A
ENST00000491008.6:n.2051-57T>A
ENST00000492226.2:n.1570-57T>A
ENST00000492773.6:c.1057-57T>A
ENST00000647636.1:c.*152-57T>A	ENSP00000497505.1:n.*152-57T>A
ENST00000647909.1:c.1327-57T>A	ENSP00000498164.1:n.1327-57T>A
ENST00000648145.1:c.1075-57T>A
ENST00000648189.1:c.1121-57T>A
ENST00000648256.1:c.1275-57T>A	ENSP00000497356.1:n.1275-57T>A
ENST00000648314.1:c.*422-57T>A	ENSP00000496920.1:n.*422-57T>A
ENST00000648599.1:c.*586-57T>A	ENSP00000497159.1:n.*586-57T>A
ENST00000648630.1:c.1182-57T>A	ENSP00000497887.1:n.1182-57T>A
ENST00000648682.1:c.*143-57T>A	ENSP00000498185.1:n.*143-57T>A
ENST00000648882.1:c.*1129-57T>A	ENSP00000497603.1:n.*1129-57T>A
ENST00000648890.1:c.1303-57T>A	ENSP00000497503.1:n.1303-57T>A
ENST00000648915.2:c.1303-57T>A MANE Select	ENSP00000497160.1:n.1303-57T>A
ENST00000649545.1:c.723+110T>A
ENST00000649688.1:c.*596-57T>A	ENSP00000497097.1:n.*596-57T>A
ENST00000649814.1:n.1352-57T>A
ENST00000650270.1:c.1170-57T>A
ENST00000273783.7:c.1303-57T>A	ENSP00000273783.3:n.1303-57T>A
ENST00000432982.5:c.246-57T>A
ENST00000444495.1:c.1303-57T>A	ENSP00000409142.1:n.1303-57T>A
ENST00000479250.1:n.73T>A
ENST00000481054.5:n.1397-57T>A
ENST00000491144.5:n.1807-57T>A
ENST00000492773.5:n.186-57T>A
NM_003907.2:c.1303-57T>A	NP_003898.2:n.1303-57T>A
XM_011513265.1:c.553-57T>A	XP_011511567.1:n.553-57T>A
XM_011513266.1:c.466-57T>A	XP_011511568.1:n.466-57T>A
XR_924208.1:n.2254-57T>A
NM_003907.3:c.1303-57T>A MANE Select	NP_003898.2:n.1303-57T>A
XM_011513266.3:c.466-57T>A	XP_011511568.1:n.466-57T>A
XR_001740352.2:n.1666-57T>A
XR_001740353.2:n.1666-57T>A
XR_924208.2:n.1666-57T>A

Linked Data

Genomic Alleles

Transcript Alleles