×
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_000006.12:g.53016133G>A , CM000668.2:g.53016133G>A
GRCh38
NC_000006.11:g.52880931G>A , CM000668.1:g.52880931G>A
GRCh37
NC_000006.10:g.52988890G>A
NCBI36
NG_012159.1:g.50670C>T
NG_012159.2:g.50670C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000350082.10:c.781C>T
ENSP00000263043.8:p.Leu261=
ENST00000676107.1:c.781C>T
MANE Select
ENSP00000501692.1:p.Leu261=
ENST00000350082.9:c.781C>T
ENSP00000263043.7:p.Leu261=
ENST00000356971.3:c.781C>T
ENSP00000349458.3:p.Leu261=
NM_014920.3:c.781C>T
NP_055735.1:p.Leu261=
NM_016513.4:c.781C>T
NP_057597.2:p.Leu261=
XM_011514419.1:c.781C>T
XP_011512721.1:p.Leu261=
XM_011514420.1:c.781C>T
XP_011512722.1:p.Leu261=
XM_011514421.1:c.781C>T
XP_011512723.1:p.Leu261=
XM_011514420.2:c.781C>T
XP_011512722.1:p.Leu261=
XM_017010485.1:c.781C>T
XP_016865974.1:p.Leu261=
XM_017010486.1:c.781C>T
XP_016865975.1:p.Leu261=
XM_017010487.1:c.781C>T
XP_016865976.1:p.Leu261=
XM_017010488.1:c.781C>T
XP_016865977.1:p.Leu261=
XM_017010489.1:c.781C>T
XP_016865978.1:p.Leu261=
XM_017010490.1:c.781C>T
XP_016865979.1:p.Leu261=
XM_017010491.1:c.781C>T
XP_016865980.1:p.Leu261=
XM_017010492.1:c.781C>T
XP_016865981.1:p.Leu261=
NM_001375397.1:c.781C>T
NP_001362326.1:p.Leu261=
NM_001375398.1:c.781C>T
NP_001362327.1:p.Leu261=
NM_001375399.1:c.781C>T
NP_001362328.1:p.Leu261=
NM_001375400.1:c.781C>T
NP_001362329.1:p.Leu261=
NM_001375401.1:c.781C>T
NP_001362330.1:p.Leu261=
NM_001375402.1:c.781C>T
NP_001362331.1:p.Leu261=
NM_014920.5:c.781C>T
MANE Select
NP_055735.1:p.Leu261=
NM_016513.5:c.781C>T
NP_057597.2:p.Leu261=
NR_164684.1:n.1182C>T