×
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_000015.10:g.44711112T>A , CM000677.2:g.44711112T>A
GRCh38
NC_000015.9:g.45003310T>A , CM000677.1:g.45003310T>A
GRCh37
NC_000015.8:g.42790602T>A
NCBI36
NG_012920.1:g.4626T>A
NG_012920.2:g.4636T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000682850.1:c.-346A>T
MANE Select
ENSP00000508024.1:n.-346A>T
ENST00000558573.1:n.205A>T
XM_011521338.1:c.-346A>T
XP_011519640.1:n.-346A>T
XM_011521339.1:c.-227A>T
XP_011519641.1:n.-227A>T
XM_011521340.1:c.-168A>T
XP_011519642.1:n.-168A>T
XM_011521343.1:c.-430A>T
XP_011519645.1:n.-430A>T
XM_011521345.1:c.-401A>T
XP_011519647.1:n.-401A>T
XM_011521338.3:c.-346A>T
XP_011519640.1:n.-346A>T
XM_011521339.3:c.-227A>T
XP_011519641.1:n.-227A>T
XM_011521340.3:c.-168A>T
XP_011519642.1:n.-168A>T
XM_011521343.3:c.-430A>T
XP_011519645.1:n.-430A>T
XM_011521345.3:c.-401A>T
XP_011519647.1:n.-401A>T
NM_001387260.1:c.-76+220A>T
NP_001374189.1:n.-76+220A>T
NM_001387261.1:c.-168A>T
NP_001374190.1:n.-168A>T
NM_001387262.1:c.-436A>T
NP_001374191.1:n.-436A>T
NM_001387263.1:c.-346A>T
MANE Select
NP_001374192.1:n.-346A>T