×
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_000002.12:g.203300299T= , CM000664.2:g.203300299T=
GRCh38
NC_000002.11:g.204165022T= , CM000664.1:g.204165022T=
GRCh37
NC_000002.10:g.203873267T=
NCBI36
NG_007956.1:g.66859T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000356079.9:c.*3391T=
MANE Select
ENSP00000348380.4:n.*3391T=
ENST00000611416.4:c.*3391T=
ENSP00000477866.1:n.*3391T=
ENST00000613925.4:c.*380+3011T=
ENSP00000482757.1:n.*380+3011T=
NM_177538.2:c.*3391T=
NP_803882.1:n.*3391T=
NM_001371695.1:c.*3391T=
NP_001358624.1:n.*3391T=
NM_001371696.1:c.*3391T=
NP_001358625.1:n.*3391T=
NM_001371697.1:c.*3391T=
NP_001358626.1:n.*3391T=
NM_001371698.1:c.*3391T=
NP_001358627.1:n.*3391T=
NM_001371699.1:c.*3391T=
NP_001358628.1:n.*3391T=
NM_001371700.1:c.*3391T=
NP_001358629.1:n.*3391T=
NM_001371701.1:c.*3391T=
NP_001358630.1:n.*3391T=
NM_001371702.1:c.*3391T=
NP_001358631.1:n.*3391T=
NM_001371703.1:c.*3391T=
NP_001358632.1:n.*3391T=
NM_001371704.1:c.*3391T=
NP_001358633.1:n.*3391T=
NM_001371705.1:c.*3391T=
NP_001358634.1:n.*3391T=
NM_001371706.1:c.*3391T=
NP_001358635.1:n.*3391T=
NM_177538.3:c.*3391T=
MANE Select
NP_803882.1:n.*3391T=
NR_163981.1:n.4704T=
NR_163982.1:n.4625T=
NR_163983.1:n.4408T=
NR_163984.1:n.4467T=
NR_163985.1:n.4713T=