Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402493A>G , CM000669.2:g.87402493A>G	GRCh38
NC_000007.13:g.87031809A>G , CM000669.1:g.87031809A>G	GRCh37
NC_000007.12:g.86869745A>G	NCBI36
NG_007118.1:g.82940T>C
NG_007118.2:g.82940T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3634-191T>C	ENSP00000352135.3:n.3634-191T>C
ENST00000649586.2:c.3634-191T>C MANE Select	ENSP00000496956.2:n.3634-191T>C
ENST00000265723.8:c.3655-191T>C	ENSP00000265723.4:n.3655-191T>C
ENST00000358400.7:c.3493-191T>C	ENSP00000351172.3:n.3493-191T>C
ENST00000359206.7:c.3634-191T>C	ENSP00000352135.3:n.3634-191T>C
ENST00000440025.1:c.68-191T>C
ENST00000453593.5:c.3493-191T>C	ENSP00000392983.1:n.3493-191T>C
ENST00000467983.1:n.246-191T>C
NM_000443.3:c.3634-191T>C	NP_000434.1:n.3634-191T>C
NM_018849.2:c.3655-191T>C	NP_061337.1:n.3655-191T>C
NM_018850.2:c.3493-191T>C	NP_061338.1:n.3493-191T>C
XM_011516308.1:c.3655-191T>C	XP_011514610.1:n.3655-191T>C
XM_011516309.1:c.3634-191T>C	XP_011514611.1:n.3634-191T>C
XM_011516310.1:c.3550-191T>C	XP_011514612.1:n.3550-191T>C
XM_011516311.1:c.3526-191T>C	XP_011514613.1:n.3526-191T>C
XM_011516312.1:c.3514-191T>C	XP_011514614.1:n.3514-191T>C
XM_011516313.1:c.3493-191T>C	XP_011514615.1:n.3493-191T>C
XM_011516314.1:c.3676-191T>C	XP_011514616.1:n.3676-191T>C
XM_011516315.1:c.2995-191T>C	XP_011514617.1:n.2995-191T>C
XM_011516308.3:c.3925-191T>C	XP_011514610.3:n.3925-191T>C
XM_011516309.3:c.3904-191T>C	XP_011514611.3:n.3904-191T>C
XM_011516310.3:c.3820-191T>C	XP_011514612.3:n.3820-191T>C
XM_011516311.3:c.3796-191T>C	XP_011514613.3:n.3796-191T>C
XM_011516312.3:c.3784-191T>C	XP_011514614.3:n.3784-191T>C
XM_011516313.3:c.3763-191T>C	XP_011514615.2:n.3763-191T>C
XM_011516315.3:c.2995-191T>C	XP_011514617.2:n.2995-191T>C
XM_017012323.2:c.3655-191T>C	XP_016867812.1:n.3655-191T>C
XR_001744809.2:n.4163-191T>C
NM_000443.4:c.3634-191T>C MANE Select	NP_000434.1:n.3634-191T>C
NM_018849.3:c.3655-191T>C	NP_061337.1:n.3655-191T>C
NM_018850.3:c.3493-191T>C	NP_061338.1:n.3493-191T>C