Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800439G>T , CM000664.2:g.174800439G>T	GRCh38
NC_000002.11:g.175665167G>T , CM000664.1:g.175665167G>T	GRCh37
NC_000002.10:g.175373413G>T	NCBI36
NG_012642.1:g.210004C>A
NG_012642.2:g.210004C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.834-152C>A	ENSP00000295497.7:n.834-152C>A
ENST00000444394.7:c.963-152C>A	ENSP00000411911.2:n.963-152C>A
ENST00000295497.12:c.834-152C>A	ENSP00000295497.7:n.834-152C>A
ENST00000409089.7:c.585-152C>A	ENSP00000386322.3:n.585-152C>A
ENST00000409900.9:c.1209-152C>A MANE Select	ENSP00000386741.4:n.1209-152C>A
ENST00000413882.6:c.663-152C>A	ENSP00000410496.2:n.663-152C>A
ENST00000443238.6:c.687-152C>A	ENSP00000409798.2:n.687-152C>A
ENST00000444394.6:c.963-152C>A	ENSP00000411911.2:n.963-152C>A
ENST00000488080.6:n.852-152C>A
ENST00000650731.1:c.534-152C>A	ENSP00000499146.1:n.534-152C>A
ENST00000650938.1:c.595-152C>A
ENST00000651246.1:c.801-152C>A	ENSP00000498484.1:n.801-152C>A
ENST00000651501.1:c.*656-152C>A	ENSP00000498894.1:n.*656-152C>A
ENST00000651717.1:c.*485-152C>A	ENSP00000499124.1:n.*485-152C>A
ENST00000652036.1:c.885-152C>A	ENSP00000499139.1:n.885-152C>A
ENST00000295497.11:c.834-152C>A	ENSP00000295497.7:n.834-152C>A
ENST00000409156.7:c.1131-152C>A	ENSP00000386470.3:n.1131-152C>A
ENST00000409597.5:c.657-152C>A	ENSP00000386469.1:n.657-152C>A
ENST00000409900.7:c.1209-152C>A	ENSP00000386741.3:n.1209-152C>A
ENST00000488080.5:n.1060-152C>A
ENST00000492964.1:n.352-152C>A
NM_001025201.3:c.1131-152C>A	NP_001020372.2:n.1131-152C>A
NM_001206602.1:c.834-152C>A	NP_001193531.1:n.834-152C>A
NM_001822.5:c.1209-152C>A	NP_001813.1:n.1209-152C>A
NR_038133.1:n.1075-152C>A
NM_001025201.4:c.1131-152C>A	NP_001020372.2:n.1131-152C>A
NM_001206602.2:c.834-152C>A	NP_001193531.1:n.834-152C>A
NM_001371513.1:c.1209-152C>A	NP_001358442.1:n.1209-152C>A
NM_001371514.1:c.1260-152C>A	NP_001358443.1:n.1260-152C>A
NM_001822.7:c.1209-152C>A MANE Select	NP_001813.1:n.1209-152C>A
NR_038133.2:n.1077-152C>A