Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148834C>T , CM000669.2:g.152148834C>T	GRCh38
NC_000007.13:g.151845919C>T , CM000669.1:g.151845919C>T	GRCh37
NC_000007.12:g.151476852C>T	NCBI36
NG_033948.1:g.292172G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1281G>A
ENST00000682116.1:n.2225G>A
ENST00000682283.1:c.13264G>A	ENSP00000507485.1:p.Val4422Ile
ENST00000682629.1:n.2393G>A
ENST00000683120.1:n.8285G>A
ENST00000683178.1:c.3666G>A
ENST00000683200.1:c.10603G>A	ENSP00000508052.1:p.Val3535Ile
ENST00000683337.1:n.4723G>A
ENST00000683502.1:c.3738G>A
ENST00000683621.1:n.1859G>A
ENST00000683640.1:n.1809G>A
ENST00000684069.1:c.1510G>A	ENSP00000507650.1:p.Val504Ile
ENST00000684261.1:c.7990G>A	ENSP00000508097.1:p.Val2664Ile
ENST00000684649.1:c.3738G>A
ENST00000262189.11:c.13093G>A MANE Select	ENSP00000262189.6:p.Val4365Ile
ENST00000360104.8:c.8880G>A
ENST00000418061.2:c.3735G>A
ENST00000424877.6:c.3669G>A
ENST00000679393.1:n.7804G>A
ENST00000679560.1:c.7993G>A	ENSP00000505094.1:p.Val2665Ile
ENST00000679882.1:c.12658G>A	ENSP00000506154.1:p.Val4220Ile
ENST00000680029.1:c.3670G>A
ENST00000680877.1:c.7993G>A	ENSP00000505724.1:p.Val2665Ile
ENST00000681923.1:n.2108G>A
ENST00000262189.10:c.13093G>A	ENSP00000262189.6:p.Val4365Ile
ENST00000355193.6:c.13093G>A	ENSP00000347325.3:p.Val4365Ile
ENST00000360104.7:c.5774G>A
ENST00000424877.5:c.2944G>A	ENSP00000410411.1:p.Val982Ile
ENST00000473186.5:n.10975G>A
ENST00000558084.5:c.*10613G>A	ENSP00000453752.1:n.*10613G>A
NM_170606.2:c.13093G>A	NP_733751.2:p.Val4365Ile
XM_005250025.3:c.13309G>A	XP_005250082.1:p.Val4437Ile
XM_005250026.2:c.13306G>A	XP_005250083.1:p.Val4436Ile
XM_005250027.3:c.13306G>A	XP_005250084.1:p.Val4436Ile
XM_005250028.3:c.13309G>A	XP_005250085.1:p.Val4437Ile
XM_005250031.3:c.13144G>A	XP_005250088.1:p.Val4382Ile
XM_006716077.2:c.13306G>A	XP_006716140.1:p.Val4436Ile
XM_006716078.2:c.13237G>A	XP_006716141.1:p.Val4413Ile
XM_006716079.2:c.13141G>A	XP_006716142.1:p.Val4381Ile
XM_011516450.1:c.13261G>A	XP_011514752.1:p.Val4421Ile
XM_011516451.1:c.13189G>A	XP_011514753.1:p.Val4397Ile
XM_011516452.1:c.13156G>A	XP_011514754.1:p.Val4386Ile
XM_011516453.1:c.13072G>A	XP_011514755.1:p.Val4358Ile
XM_011516454.1:c.12394G>A	XP_011514756.1:p.Val4132Ile
XM_011516455.1:c.10855G>A	XP_011514757.1:p.Val3619Ile
XM_011516456.1:c.13261G>A	XP_011514758.1:p.Val4421Ile
XM_005250025.4:c.13309G>A	XP_005250082.1:p.Val4437Ile
XM_005250026.3:c.13306G>A	XP_005250083.1:p.Val4436Ile
XM_005250027.4:c.13306G>A	XP_005250084.1:p.Val4436Ile
XM_005250028.4:c.13309G>A	XP_005250085.1:p.Val4437Ile
XM_005250031.4:c.13144G>A	XP_005250088.1:p.Val4382Ile
XM_006716077.3:c.13306G>A	XP_006716140.1:p.Val4436Ile
XM_006716078.3:c.13237G>A	XP_006716141.1:p.Val4413Ile
XM_006716079.3:c.13141G>A	XP_006716142.1:p.Val4381Ile
XM_011516450.2:c.13261G>A	XP_011514752.1:p.Val4421Ile
XM_011516451.2:c.13189G>A	XP_011514753.1:p.Val4397Ile
XM_011516452.2:c.13156G>A	XP_011514754.1:p.Val4386Ile
XM_011516453.2:c.13072G>A	XP_011514755.1:p.Val4358Ile
XM_011516454.2:c.12394G>A	XP_011514756.1:p.Val4132Ile
XM_011516456.2:c.13261G>A	XP_011514758.1:p.Val4421Ile
XM_017012480.1:c.13309G>A	XP_016867969.1:p.Val4437Ile
XM_017012481.1:c.13306G>A	XP_016867970.1:p.Val4436Ile
XM_017012482.1:c.13306G>A	XP_016867971.1:p.Val4436Ile
XM_017012483.1:c.13306G>A	XP_016867972.1:p.Val4436Ile
XM_017012484.1:c.13276G>A	XP_016867973.1:p.Val4426Ile
XM_017012485.1:c.13258G>A	XP_016867974.1:p.Val4420Ile
XM_017012486.1:c.13234G>A	XP_016867975.1:p.Val4412Ile
XM_017012487.1:c.13162G>A	XP_016867976.1:p.Val4388Ile
XM_017012488.1:c.13126G>A	XP_016867977.1:p.Val4376Ile
XM_017012489.1:c.9979G>A	XP_016867978.1:p.Val3327Ile
XM_017012490.2:c.9583G>A	XP_016867979.1:p.Val3195Ile
XM_024446852.1:c.13306G>A	XP_024302620.1:p.Val4436Ile
XM_024446853.1:c.13234G>A	XP_024302621.1:p.Val4412Ile
NM_170606.3:c.13093G>A MANE Select	NP_733751.2:p.Val4365Ile

Linked Data

Genomic Alleles

Transcript Alleles