×
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_000019.10:g.6495806G>T , CM000681.2:g.6495806G>T
GRCh38
NC_000019.9:g.6495817G>T , CM000681.1:g.6495817G>T
GRCh37
NC_000019.8:g.6446817G>T
NCBI36
NG_033896.1:g.12043C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264071.7:c.693C>A
MANE Select
ENSP00000264071.1:p.Ala231=
ENST00000264071.6:c.693C>A
ENSP00000264071.1:p.Ala231=
ENST00000540257.5:c.693C>A
ENSP00000443590.1:p.Ala231=
ENST00000594276.5:c.381C>A
ENSP00000472481.1:p.Ala127=
NM_001289123.1:c.846C>A
NP_001276052.1:p.Ala282=
NM_001289127.1:c.828C>A
NP_001276056.1:p.Ala276=
NM_001289129.1:c.693C>A
NP_001276058.1:p.Ala231=
NM_001289130.1:c.477C>A
NP_001276059.1:p.Ala159=
NM_001289131.1:c.477C>A
NP_001276060.1:p.Ala159=
NM_006087.3:c.693C>A
NP_006078.2:p.Ala231=
NM_006087.4:c.693C>A
MANE Select
NP_006078.2:p.Ala231=
NM_001289123.2:c.846C>A
NP_001276052.1:p.Ala282=
NM_001289127.2:c.828C>A
NP_001276056.1:p.Ala276=
NM_001289129.2:c.693C>A
NP_001276058.1:p.Ala231=
NM_001289130.2:c.477C>A
NP_001276059.1:p.Ala159=
NM_001289131.2:c.477C>A
NP_001276060.1:p.Ala159=