Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136786T>C , CM000665.2:g.184136786T>C	GRCh38
NC_000003.11:g.183854574T>C , CM000665.1:g.183854574T>C	GRCh37
NC_000003.10:g.185337268T>C	NCBI36
NG_015826.1:g.6765T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.*46T>C	ENSP00000414775.1:n.*46T>C
ENST00000465218.3:n.343+50T>C
ENST00000468748.7:n.303+50T>C
ENST00000471832.2:c.*364T>C	ENSP00000497786.1:n.*364T>C
ENST00000484154.2:n.108T>C
ENST00000491008.6:n.235T>C
ENST00000492226.2:n.317+50T>C
ENST00000492773.6:c.52+50T>C
ENST00000647636.1:c.320+50T>C	ENSP00000497505.1:n.320+50T>C
ENST00000647909.1:c.320+50T>C	ENSP00000498164.1:n.320+50T>C
ENST00000648145.1:c.88+50T>C
ENST00000648189.1:c.70+50T>C
ENST00000648256.1:c.269+50T>C	ENSP00000497356.1:n.269+50T>C
ENST00000648314.1:c.320+50T>C	ENSP00000496920.1:n.320+50T>C
ENST00000648599.1:c.320+50T>C	ENSP00000497159.1:n.320+50T>C
ENST00000648630.1:c.314+50T>C	ENSP00000497887.1:n.314+50T>C
ENST00000648682.1:c.320+50T>C	ENSP00000498185.1:n.320+50T>C
ENST00000648882.1:c.*146+50T>C	ENSP00000497603.1:n.*146+50T>C
ENST00000648890.1:c.320+50T>C	ENSP00000497503.1:n.320+50T>C
ENST00000648915.2:c.320+50T>C MANE Select	ENSP00000497160.1:n.320+50T>C
ENST00000649545.1:c.54+50T>C
ENST00000649688.1:c.320+50T>C	ENSP00000497097.1:n.320+50T>C
ENST00000649814.1:n.369+50T>C
ENST00000650244.1:c.465+50T>C	ENSP00000497227.1:n.465+50T>C
ENST00000650270.1:c.187+50T>C
ENST00000273783.7:c.320+50T>C	ENSP00000273783.3:n.320+50T>C
ENST00000432569.1:c.*46T>C	ENSP00000414775.1:n.*46T>C
ENST00000432982.5:c.245+111T>C
ENST00000444495.1:c.320+50T>C	ENSP00000409142.1:n.320+50T>C
ENST00000471832.1:n.301T>C
ENST00000481054.5:n.321+50T>C
ENST00000491144.5:n.668+50T>C
ENST00000498831.1:n.176+50T>C
NM_003907.2:c.320+50T>C	NP_003898.2:n.320+50T>C
XR_924208.1:n.1271+50T>C
NM_003907.3:c.320+50T>C MANE Select	NP_003898.2:n.320+50T>C
XM_011513266.3:c.-582+50T>C	XP_011511568.1:n.-582+50T>C
XR_001740352.2:n.683+50T>C
XR_001740353.2:n.683+50T>C
XR_924208.2:n.683+50T>C