Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136827A>C , CM000665.2:g.184136827A>C	GRCh38
NC_000003.11:g.183854615A>C , CM000665.1:g.183854615A>C	GRCh37
NC_000003.10:g.185337309A>C	NCBI36
NG_015826.1:g.6806A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.*87A>C	ENSP00000414775.1:n.*87A>C
ENST00000465218.3:n.343+91A>C
ENST00000468748.7:n.303+91A>C
ENST00000471832.2:c.*405A>C	ENSP00000497786.1:n.*405A>C
ENST00000484154.2:n.149A>C
ENST00000491008.6:n.276A>C
ENST00000492226.2:n.317+91A>C
ENST00000492773.6:c.52+91A>C
ENST00000647636.1:c.320+91A>C	ENSP00000497505.1:n.320+91A>C
ENST00000647909.1:c.320+91A>C	ENSP00000498164.1:n.320+91A>C
ENST00000648145.1:c.88+91A>C
ENST00000648189.1:c.70+91A>C
ENST00000648256.1:c.269+91A>C	ENSP00000497356.1:n.269+91A>C
ENST00000648314.1:c.320+91A>C	ENSP00000496920.1:n.320+91A>C
ENST00000648599.1:c.320+91A>C	ENSP00000497159.1:n.320+91A>C
ENST00000648630.1:c.314+91A>C	ENSP00000497887.1:n.314+91A>C
ENST00000648682.1:c.320+91A>C	ENSP00000498185.1:n.320+91A>C
ENST00000648882.1:c.*146+91A>C	ENSP00000497603.1:n.*146+91A>C
ENST00000648890.1:c.320+91A>C	ENSP00000497503.1:n.320+91A>C
ENST00000648915.2:c.320+91A>C MANE Select	ENSP00000497160.1:n.320+91A>C
ENST00000649545.1:c.54+91A>C
ENST00000649688.1:c.320+91A>C	ENSP00000497097.1:n.320+91A>C
ENST00000649814.1:n.369+91A>C
ENST00000650244.1:c.465+91A>C	ENSP00000497227.1:n.465+91A>C
ENST00000650270.1:c.187+91A>C
ENST00000273783.7:c.320+91A>C	ENSP00000273783.3:n.320+91A>C
ENST00000432569.1:c.*87A>C	ENSP00000414775.1:n.*87A>C
ENST00000432982.5:c.245+152A>C
ENST00000444495.1:c.320+91A>C	ENSP00000409142.1:n.320+91A>C
ENST00000471832.1:n.342A>C
ENST00000481054.5:n.321+91A>C
ENST00000491144.5:n.668+91A>C
ENST00000498831.1:n.176+91A>C
NM_003907.2:c.320+91A>C	NP_003898.2:n.320+91A>C
XR_924208.1:n.1271+91A>C
NM_003907.3:c.320+91A>C MANE Select	NP_003898.2:n.320+91A>C
XM_011513266.3:c.-582+91A>C	XP_011511568.1:n.-582+91A>C
XR_001740352.2:n.683+91A>C
XR_001740353.2:n.683+91A>C
XR_924208.2:n.683+91A>C