×
SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500 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. This migration is underway but taking longer than originally estimated.
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.14148603G>C , CM000665.2:g.14148603G>C
GRCh38
NC_000003.11:g.14190103G>C , CM000665.1:g.14190103G>C
GRCh37
NC_000003.10:g.14165104G>C
NCBI36
NG_011763.1:g.35070C>G , LRG_472:g.35070C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000285021.12:c.2379C>G
MANE Select
ENSP00000285021.8:p.Ala793=
ENST00000285021.11:c.2379C>G
ENSP00000285021.7:p.Ala793=
ENST00000427795.2:n.244C>G
ENST00000476581.6:c.*1832C>G
ENSP00000424548.1:n.*1832C>G
NM_004628.4:c.2379C>G , LRG_472t1:c.2379C>G
NP_004619.3:p.Ala793=
NR_027299.1:n.2359C>G
XM_011534092.1:c.2379C>G
XP_011532394.1:p.Ala793=
NM_001354726.1:c.1800C>G
NP_001341655.1:p.Ala600=
NM_001354727.1:c.2373C>G
NP_001341656.1:p.Ala791=
NM_001354729.1:c.2361C>G
NP_001341658.1:p.Ala787=
NM_001354730.1:c.2133C>G
NP_001341659.1:p.Ala711=
NR_148950.1:n.2322C>G
NR_148951.1:n.2198C>G
XR_001740256.2:n.2412C>G
XR_002959580.1:n.2412C>G
XR_002959581.1:n.4029C>G
NM_001354727.2:c.2373C>G
NP_001341656.1:p.Ala791=
NM_004628.5:c.2379C>G
MANE Select
NP_004619.3:p.Ala793=
NR_148950.2:n.2251C>G
NR_148951.2:n.2127C>G
NM_001354726.2:c.1800C>G
NP_001341655.1:p.Ala600=
NM_001354729.2:c.2361C>G
NP_001341658.1:p.Ala787=
NM_001354730.2:c.2133C>G
NP_001341659.1:p.Ala711=