Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92047623A>G , CM000671.2:g.92047623A>G	GRCh38
NC_000009.11:g.94809905A>G , CM000671.1:g.94809905A>G	GRCh37
NC_000009.10:g.93849726A>G	NCBI36
NG_007950.1:g.72786T>C , LRG_272:g.72786T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.1384T>C
ENST00000686600.1:c.974T>C	ENSP00000509268.1:p.Ile325Thr
ENST00000686799.1:n.1071T>C
ENST00000687427.1:c.974T>C	ENSP00000509426.1:p.Ile325Thr
ENST00000687817.1:c.*777T>C	ENSP00000508926.1:n.*777T>C
ENST00000687972.1:c.1034T>C	ENSP00000509208.1:p.Ile345Thr
ENST00000689261.1:n.881T>C
ENST00000689401.1:c.*1224T>C	ENSP00000510251.1:n.*1224T>C
ENST00000689423.1:c.*1224T>C	ENSP00000508519.1:n.*1224T>C
ENST00000690095.1:n.1302T>C
ENST00000690139.1:c.*675T>C	ENSP00000510483.1:n.*675T>C
ENST00000692458.1:n.997T>C
ENST00000693147.1:c.*990T>C	ENSP00000510358.1:n.*990T>C
ENST00000262554.7:c.974T>C MANE Select	ENSP00000262554.2:p.Ile325Thr
ENST00000642671.1:c.1215T>C	ENSP00000495764.1:n.1215T>C
ENST00000643599.1:c.1042T>C	ENSP00000494770.1:n.1042T>C
ENST00000644140.1:c.*715T>C	ENSP00000493933.1:n.*715T>C
ENST00000646481.1:c.846T>C	ENSP00000496627.1:n.846T>C
ENST00000646534.1:c.*777T>C	ENSP00000495388.1:n.*777T>C
ENST00000262554.6:c.974T>C	ENSP00000262554.2:p.Ile325Thr
NM_001281303.1:c.974T>C	NP_001268232.1:p.Ile325Thr
NM_006415.3:c.974T>C	NP_006406.1:p.Ile325Thr
XM_011518138.1:c.974T>C	XP_011516440.1:p.Ile325Thr
XM_011518139.1:c.509T>C	XP_011516441.1:p.Ile170Thr
XM_011518138.2:c.974T>C	XP_011516440.1:p.Ile325Thr
XM_011518139.3:c.509T>C	XP_011516441.1:p.Ile170Thr
XM_017014200.2:c.608T>C	XP_016869689.1:p.Ile203Thr
XM_017014201.2:c.608T>C	XP_016869690.1:p.Ile203Thr
XM_024447378.1:c.509T>C	XP_024303146.1:p.Ile170Thr
XM_024447379.1:c.509T>C	XP_024303147.1:p.Ile170Thr
XR_002956744.1:n.1124T>C
NM_006415.4:c.974T>C MANE Select	NP_006406.1:p.Ile325Thr
NM_001281303.2:c.974T>C	NP_001268232.1:p.Ile325Thr
NM_001368272.1:c.608T>C	NP_001355201.1:p.Ile203Thr
NM_001368273.1:c.509T>C	NP_001355202.1:p.Ile170Thr