×
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_000014.9:g.94587355C= , CM000676.2:g.94587355C=
GRCh38
NC_000014.8:g.95053692C= , CM000676.1:g.95053692C=
GRCh37
NC_000014.7:g.94123445C=
NCBI36
NG_032908.2:g.30914C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000329597.12:c.-8C=
MANE Select
ENSP00000333203.7:n.-8C=
ENST00000329597.11:c.-8C=
ENSP00000333203.7:n.-8C=
ENST00000553511.1:c.-8C=
ENSP00000451215.1:n.-8C=
ENST00000553780.5:c.-8C=
ENSP00000450837.1:n.-8C=
ENST00000554220.5:c.-8C=
ENSP00000450484.1:n.-8C=
ENST00000554276.1:c.-8C=
ENSP00000451610.1:n.-8C=
ENST00000554633.5:c.-8C=
ENSP00000451697.1:n.-8C=
ENST00000554760.5:c.-8C=
ENSP00000452469.1:n.-8C=
ENST00000554866.5:c.-8C=
ENSP00000451126.1:n.-8C=
ENST00000555681.1:c.-8C=
ENSP00000451650.1:n.-8C=
ENST00000556064.1:c.-8C=
ENSP00000451487.1:n.-8C=
ENST00000556730.1:n.110C=
ENST00000556775.5:c.-8C=
ENSP00000450745.1:n.-8C=
ENST00000557598.1:c.-8C=
ENSP00000450485.1:n.-8C=
NM_000624.5:c.-8C=
NP_000615.3:n.-8C=
NM_000624.6:c.-8C=
MANE Select
NP_000615.3:n.-8C=