Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184144111T>A , CM000665.2:g.184144111T>A	GRCh38
NC_000003.11:g.183861899T>A , CM000665.1:g.183861899T>A	GRCh37
NC_000003.10:g.185344593T>A	NCBI36
NG_015826.1:g.14090T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.2204T>A
ENST00000468748.7:n.2957T>A
ENST00000484154.2:n.2944T>A
ENST00000491008.6:n.2646T>A
ENST00000492226.2:n.2981T>A
ENST00000492773.6:c.1636T>A
ENST00000647636.1:c.*731T>A	ENSP00000497505.1:n.*731T>A
ENST00000647909.1:c.1906T>A	ENSP00000498164.1:p.Trp636Arg
ENST00000648145.1:c.1674T>A
ENST00000648189.1:c.1716T>A
ENST00000648256.1:c.1854T>A	ENSP00000497356.1:n.1854T>A
ENST00000648314.1:c.*1288-17T>A	ENSP00000496920.1:n.*1288-17T>A
ENST00000648599.1:c.*1165T>A	ENSP00000497159.1:n.*1165T>A
ENST00000648630.1:c.2060T>A	ENSP00000497887.1:n.2060T>A
ENST00000648682.1:c.*1021T>A	ENSP00000498185.1:n.*1021T>A
ENST00000648882.1:c.*1708T>A	ENSP00000497603.1:n.*1708T>A
ENST00000648890.1:c.*305T>A	ENSP00000497503.1:n.*305T>A
ENST00000648915.2:c.1882T>A MANE Select	ENSP00000497160.1:p.Trp628Arg
ENST00000649545.1:c.1541T>A
ENST00000649688.1:c.*1474T>A	ENSP00000497097.1:n.*1474T>A
ENST00000649814.1:n.2480T>A
ENST00000650270.1:c.1760T>A
ENST00000273783.7:c.1882T>A	ENSP00000273783.3:p.Trp628Arg
ENST00000444495.1:c.1882T>A	ENSP00000409142.1:p.Trp628Arg
ENST00000465218.2:n.664T>A
ENST00000481054.5:n.2808T>A
ENST00000491144.5:n.2386T>A
ENST00000492226.1:n.58T>A
NM_003907.2:c.1882T>A	NP_003898.2:p.Trp628Arg
XM_011513265.1:c.1132T>A	XP_011511567.1:p.Trp378Arg
XM_011513266.1:c.1045T>A	XP_011511568.1:p.Trp349Arg
XR_924208.1:n.2849T>A
NM_003907.3:c.1882T>A MANE Select	NP_003898.2:p.Trp628Arg
XM_011513266.3:c.1045T>A	XP_011511568.1:p.Trp349Arg
XR_001740352.2:n.2256T>A
XR_001740353.2:n.2272T>A
XR_924208.2:n.2261T>A

Linked Data

Genomic Alleles

Transcript Alleles