×
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.12192992G>A , CM000663.2:g.12192992G>A
GRCh38
NC_000001.10:g.12253049G>A , CM000663.1:g.12253049G>A
GRCh37
NC_000001.9:g.12175636G>A
NCBI36
NG_029791.1:g.30990G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000376259.7:c.681G>A
MANE Select
ENSP00000365435.3:p.Thr227=
ENST00000376259.6:c.681G>A
ENSP00000365435.3:p.Thr227=
ENST00000489921.1:n.393G>A
ENST00000492361.1:n.670G>A
NM_001066.2:c.681G>A
NP_001057.1:p.Thr227=
XM_011542060.1:c.681G>A
XP_011540362.1:p.Thr227=
XM_011542061.1:c.681G>A
XP_011540363.1:p.Thr227=
XM_011542062.1:c.660G>A
XP_011540364.1:p.Thr220=
XM_011542063.1:c.681G>A
XP_011540365.1:p.Thr227=
XM_011542060.2:c.681G>A
XP_011540362.1:p.Thr227=
XM_011542063.2:c.681G>A
XP_011540365.1:p.Thr227=
XM_017002211.1:c.681G>A
XP_016857700.1:p.Thr227=
XM_017002214.1:c.96G>A
XP_016857703.1:p.Thr32=
XM_017002215.1:c.96G>A
XP_016857704.1:p.Thr32=
NM_001066.3:c.681G>A
MANE Select
NP_001057.1:p.Thr227=