Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.152148818G>T , CM000669.2:g.152148818G>T	GRCh38
NC_000007.13:g.151845903G>T , CM000669.1:g.151845903G>T	GRCh37
NC_000007.12:g.151476836G>T	NCBI36
NG_033948.1:g.292188C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682040.1:c.1297C>A
ENST00000682116.1:n.2241C>A
ENST00000682283.1:c.13280C>A	ENSP00000507485.1:p.Thr4427Lys
ENST00000682629.1:n.2409C>A
ENST00000683120.1:n.8301C>A
ENST00000683178.1:c.3682C>A
ENST00000683200.1:c.10619C>A	ENSP00000508052.1:p.Thr3540Lys
ENST00000683337.1:n.4739C>A
ENST00000683502.1:c.3754C>A
ENST00000683621.1:n.1875C>A
ENST00000683640.1:n.1825C>A
ENST00000684069.1:c.1526C>A	ENSP00000507650.1:p.Thr509Lys
ENST00000684261.1:c.8006C>A	ENSP00000508097.1:p.Thr2669Lys
ENST00000684649.1:c.3754C>A
ENST00000262189.11:c.13109C>A MANE Select	ENSP00000262189.6:p.Thr4370Lys
ENST00000360104.8:c.8896C>A
ENST00000418061.2:c.3751C>A
ENST00000424877.6:c.3685C>A
ENST00000679393.1:n.7820C>A
ENST00000679560.1:c.8009C>A	ENSP00000505094.1:p.Thr2670Lys
ENST00000679882.1:c.12674C>A	ENSP00000506154.1:p.Thr4225Lys
ENST00000680029.1:c.3686C>A
ENST00000680877.1:c.8009C>A	ENSP00000505724.1:p.Thr2670Lys
ENST00000681923.1:n.2124C>A
ENST00000262189.10:c.13109C>A	ENSP00000262189.6:p.Thr4370Lys
ENST00000355193.6:c.13109C>A	ENSP00000347325.3:p.Thr4370Lys
ENST00000360104.7:c.5790C>A
ENST00000424877.5:c.2960C>A	ENSP00000410411.1:p.Thr987Lys
ENST00000473186.5:n.10991C>A
ENST00000558084.5:c.*10629C>A	ENSP00000453752.1:n.*10629C>A
NM_170606.2:c.13109C>A	NP_733751.2:p.Thr4370Lys
XM_005250025.3:c.13325C>A	XP_005250082.1:p.Thr4442Lys
XM_005250026.2:c.13322C>A	XP_005250083.1:p.Thr4441Lys
XM_005250027.3:c.13322C>A	XP_005250084.1:p.Thr4441Lys
XM_005250028.3:c.13325C>A	XP_005250085.1:p.Thr4442Lys
XM_005250031.3:c.13160C>A	XP_005250088.1:p.Thr4387Lys
XM_006716077.2:c.13322C>A	XP_006716140.1:p.Thr4441Lys
XM_006716078.2:c.13253C>A	XP_006716141.1:p.Thr4418Lys
XM_006716079.2:c.13157C>A	XP_006716142.1:p.Thr4386Lys
XM_011516450.1:c.13277C>A	XP_011514752.1:p.Thr4426Lys
XM_011516451.1:c.13205C>A	XP_011514753.1:p.Thr4402Lys
XM_011516452.1:c.13172C>A	XP_011514754.1:p.Thr4391Lys
XM_011516453.1:c.13088C>A	XP_011514755.1:p.Thr4363Lys
XM_011516454.1:c.12410C>A	XP_011514756.1:p.Thr4137Lys
XM_011516455.1:c.10871C>A	XP_011514757.1:p.Thr3624Lys
XM_011516456.1:c.13277C>A	XP_011514758.1:p.Thr4426Lys
XM_005250025.4:c.13325C>A	XP_005250082.1:p.Thr4442Lys
XM_005250026.3:c.13322C>A	XP_005250083.1:p.Thr4441Lys
XM_005250027.4:c.13322C>A	XP_005250084.1:p.Thr4441Lys
XM_005250028.4:c.13325C>A	XP_005250085.1:p.Thr4442Lys
XM_005250031.4:c.13160C>A	XP_005250088.1:p.Thr4387Lys
XM_006716077.3:c.13322C>A	XP_006716140.1:p.Thr4441Lys
XM_006716078.3:c.13253C>A	XP_006716141.1:p.Thr4418Lys
XM_006716079.3:c.13157C>A	XP_006716142.1:p.Thr4386Lys
XM_011516450.2:c.13277C>A	XP_011514752.1:p.Thr4426Lys
XM_011516451.2:c.13205C>A	XP_011514753.1:p.Thr4402Lys
XM_011516452.2:c.13172C>A	XP_011514754.1:p.Thr4391Lys
XM_011516453.2:c.13088C>A	XP_011514755.1:p.Thr4363Lys
XM_011516454.2:c.12410C>A	XP_011514756.1:p.Thr4137Lys
XM_011516456.2:c.13277C>A	XP_011514758.1:p.Thr4426Lys
XM_017012480.1:c.13325C>A	XP_016867969.1:p.Thr4442Lys
XM_017012481.1:c.13322C>A	XP_016867970.1:p.Thr4441Lys
XM_017012482.1:c.13322C>A	XP_016867971.1:p.Thr4441Lys
XM_017012483.1:c.13322C>A	XP_016867972.1:p.Thr4441Lys
XM_017012484.1:c.13292C>A	XP_016867973.1:p.Thr4431Lys
XM_017012485.1:c.13274C>A	XP_016867974.1:p.Thr4425Lys
XM_017012486.1:c.13250C>A	XP_016867975.1:p.Thr4417Lys
XM_017012487.1:c.13178C>A	XP_016867976.1:p.Thr4393Lys
XM_017012488.1:c.13142C>A	XP_016867977.1:p.Thr4381Lys
XM_017012489.1:c.9995C>A	XP_016867978.1:p.Thr3332Lys
XM_017012490.2:c.9599C>A	XP_016867979.1:p.Thr3200Lys
XM_024446852.1:c.13322C>A	XP_024302620.1:p.Thr4441Lys
XM_024446853.1:c.13250C>A	XP_024302621.1:p.Thr4417Lys
NM_170606.3:c.13109C>A MANE Select	NP_733751.2:p.Thr4370Lys

Linked Data

Genomic Alleles

Transcript Alleles