×
SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500 New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks. This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.158680637T>A , CM000663.2:g.158680637T>A
GRCh38
NC_000001.10:g.158650427T>A , CM000663.1:g.158650427T>A
GRCh37
NC_000001.9:g.156917051T>A
NCBI36
NG_011474.1:g.11080A>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000643759.2:c.624A>T
MANE Select
ENSP00000495214.1:p.Val208=
ENST00000368147.8:c.624A>T
ENSP00000357129.4:p.Val208=
ENST00000467387.1:c.133-2103A>T
ENSP00000476485.1:n.133-2103A>T
ENST00000614909.4:c.624A>T
ENSP00000482595.1:p.Val208=
NM_003126.2:c.624A>T
NP_003117.2:p.Val208=
XM_011509916.1:c.624A>T
XP_011508218.1:p.Val208=
XM_011509917.1:c.624A>T
XP_011508219.1:p.Val208=
XM_011509918.1:c.624A>T
XP_011508220.1:p.Val208=
XM_011509919.1:c.624A>T
XP_011508221.1:p.Val208=
XR_921911.1:n.737A>T
XR_921912.1:n.742A>T
NM_003126.3:c.624A>T
NP_003117.2:p.Val208=
XM_011509916.2:c.624A>T
XP_011508218.1:p.Val208=
XM_011509917.3:c.624A>T
XP_011508219.1:p.Val208=
XM_011509918.3:c.624A>T
XP_011508220.1:p.Val208=
XM_011509919.3:c.624A>T
XP_011508221.1:p.Val208=
XR_921911.3:n.750A>T
XR_921912.2:n.752A>T
NM_003126.4:c.624A>T
MANE Select
NP_003117.2:p.Val208=