Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87411973C>T , CM000669.2:g.87411973C>T	GRCh38
NC_000007.13:g.87041289C>T , CM000669.1:g.87041289C>T	GRCh37
NC_000007.12:g.86879225C>T	NCBI36
NG_007118.1:g.73460G>A
NG_007118.2:g.73460G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.2844G>A	ENSP00000352135.3:p.Met948Ile
ENST00000649586.2:c.2844G>A MANE Select	ENSP00000496956.2:p.Met948Ile
ENST00000265723.8:c.2844G>A	ENSP00000265723.4:p.Met948Ile
ENST00000358400.7:c.2783+1644G>A	ENSP00000351172.3:n.2783+1644G>A
ENST00000359206.7:c.2844G>A	ENSP00000352135.3:p.Met948Ile
ENST00000453593.5:c.2783+1644G>A	ENSP00000392983.1:n.2783+1644G>A
NM_000443.3:c.2844G>A	NP_000434.1:p.Met948Ile
NM_018849.2:c.2844G>A	NP_061337.1:p.Met948Ile
NM_018850.2:c.2783+1644G>A	NP_061338.1:n.2783+1644G>A
XM_011516308.1:c.2844G>A	XP_011514610.1:p.Met948Ile
XM_011516309.1:c.2844G>A	XP_011514611.1:p.Met948Ile
XM_011516310.1:c.2739G>A	XP_011514612.1:p.Met913Ile
XM_011516311.1:c.2784-69G>A	XP_011514613.1:n.2784-69G>A
XM_011516312.1:c.2783+1644G>A	XP_011514614.1:n.2783+1644G>A
XM_011516313.1:c.2783+1644G>A	XP_011514615.1:n.2783+1644G>A
XM_011516314.1:c.2865G>A	XP_011514616.1:p.Met955Ile
XM_011516315.1:c.2184G>A	XP_011514617.1:p.Met728Ile
XR_927478.1:n.2779-2581G>A
XM_011516308.3:c.3114G>A	XP_011514610.3:p.Met1038Ile
XM_011516309.3:c.3114G>A	XP_011514611.3:p.Met1038Ile
XM_011516310.3:c.3009G>A	XP_011514612.3:p.Met1003Ile
XM_011516311.3:c.3054-69G>A	XP_011514613.3:n.3054-69G>A
XM_011516312.3:c.3053+1644G>A	XP_011514614.3:n.3053+1644G>A
XM_011516313.3:c.3053+1644G>A	XP_011514615.2:n.3053+1644G>A
XM_011516315.3:c.2184G>A	XP_011514617.2:p.Met728Ile
XM_017012323.2:c.2844G>A	XP_016867812.1:p.Met948Ile
XR_001744809.2:n.3454-2581G>A
NM_000443.4:c.2844G>A MANE Select	NP_000434.1:p.Met948Ile
NM_018849.3:c.2844G>A	NP_061337.1:p.Met948Ile
NM_018850.3:c.2783+1644G>A	NP_061338.1:n.2783+1644G>A

Linked Data

Genomic Alleles

Transcript Alleles