Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551917C>T , CM000664.2:g.85551917C>T	GRCh38
NC_000002.11:g.85779040C>T , CM000664.1:g.85779040C>T	GRCh37
NC_000002.10:g.85632551C>T	NCBI36
NG_011811.2:g.14618G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5982G>A
ENST00000482662.2:n.4389G>A
ENST00000685865.1:n.2341G>A
ENST00000687250.1:n.2041G>A
ENST00000687995.1:n.1856G>A
ENST00000688205.1:c.*1097G>A	ENSP00000509673.1:n.*1097G>A
ENST00000688788.1:n.1743G>A
ENST00000689276.1:c.1435G>A	ENSP00000510012.1:p.Val479Met
ENST00000689576.1:c.*123G>A	ENSP00000508712.1:n.*123G>A
ENST00000690108.1:c.*1160G>A	ENSP00000510617.1:n.*1160G>A
ENST00000690468.1:c.*56G>A	ENSP00000509078.1:n.*56G>A
ENST00000690595.1:c.829G>A	ENSP00000508979.1:p.Val277Met
ENST00000691348.1:c.*56G>A	ENSP00000509369.1:n.*56G>A
ENST00000691410.1:c.*1081G>A	ENSP00000508479.1:n.*1081G>A
ENST00000693287.1:c.820G>A	ENSP00000510264.1:p.Val274Met
ENST00000693681.1:c.817G>A	ENSP00000510789.1:p.Val273Met
ENST00000233838.9:c.1504G>A MANE Select	ENSP00000233838.3:p.Val502Met
ENST00000233838.8:c.1504G>A	ENSP00000233838.3:p.Val502Met
ENST00000430215.7:c.1333G>A	ENSP00000408045.3:p.Val445Met
ENST00000465637.5:n.179-3913G>A
NM_000821.5:c.1504G>A	NP_000812.2:p.Val502Met
NM_000821.6:c.1504G>A	NP_000812.2:p.Val502Met
NM_001142269.2:c.1333G>A	NP_001135741.1:p.Val445Met
NM_001142269.3:c.1333G>A	NP_001135741.1:p.Val445Met
XM_005264259.3:c.1504G>A	XP_005264316.1:p.Val502Met
XM_011532764.1:c.682G>A	XP_011531066.1:p.Val228Met
XM_011532765.1:c.682G>A	XP_011531067.1:p.Val228Met
XR_939677.1:n.1417G>A
XM_005264259.5:c.1504G>A	XP_005264316.1:p.Val502Met
XM_011532764.3:c.682G>A	XP_011531066.1:p.Val228Met
XM_011532765.3:c.682G>A	XP_011531067.1:p.Val228Met
XM_017003803.2:c.1333G>A	XP_016859292.1:p.Val445Met
XR_001738703.2:n.1417G>A
NM_000821.7:c.1504G>A MANE Select	NP_000812.2:p.Val502Met
NM_001142269.4:c.1333G>A	NP_001135741.1:p.Val445Met

Linked Data

Genomic Alleles

Transcript Alleles