×
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_000016.10:g.55656135C= , CM000678.2:g.55656135C=
GRCh38
NC_000016.9:g.55690047C= , CM000678.1:g.55690047C=
GRCh37
NC_000016.8:g.54247548C=
NCBI36
NG_016969.1:g.5506C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000568943.6:c.-86C=
MANE Select
ENSP00000457473.1:n.-86C=
ENST00000414754.7:c.-86C=
ENSP00000394956.3:n.-86C=
ENST00000568529.6:c.-86C=
ENSP00000456377.2:n.-86C=
ENST00000568943.5:c.-86C=
ENSP00000457473.1:n.-86C=
NM_001172501.1:c.-86C=
NP_001165972.1:n.-86C=
XM_011523295.1:c.-86C=
XP_011521597.1:n.-86C=
XM_011523296.1:c.-86C=
XP_011521598.1:n.-86C=
XM_011523297.1:c.-86C=
XP_011521599.1:n.-86C=
XM_011523298.1:c.-86C=
XP_011521600.1:n.-86C=
XR_933403.1:n.532C=
XM_011523295.2:c.-86C=
XP_011521597.1:n.-86C=
XM_011523296.2:c.-86C=
XP_011521598.1:n.-86C=
XM_011523297.3:c.-86C=
XP_011521599.1:n.-86C=
XM_011523298.2:c.-86C=
XP_011521600.1:n.-86C=
XR_933403.3:n.208C=
NM_001172501.2:c.-86C=
NP_001165972.1:n.-86C=
NM_001172501.3:c.-86C=
MANE Select
NP_001165972.1:n.-86C=