×
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.44711022A>T , CM000677.2:g.44711022A>T
GRCh38
NC_000015.9:g.45003220A>T , CM000677.1:g.45003220A>T
GRCh37
NC_000015.8:g.42790512A>T
NCBI36
NG_012920.1:g.4536A>T
NG_012920.2:g.4546A>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000682850.1:c.-256T>A
MANE Select
ENSP00000508024.1:n.-256T>A
ENST00000558573.1:n.295T>A
XM_011521338.1:c.-256T>A
XP_011519640.1:n.-256T>A
XM_011521339.1:c.-137T>A
XP_011519641.1:n.-137T>A
XM_011521340.1:c.-78T>A
XP_011519642.1:n.-78T>A
XM_011521343.1:c.-340T>A
XP_011519645.1:n.-340T>A
XM_011521345.1:c.-311T>A
XP_011519647.1:n.-311T>A
XM_011521338.3:c.-256T>A
XP_011519640.1:n.-256T>A
XM_011521339.3:c.-137T>A
XP_011519641.1:n.-137T>A
XM_011521340.3:c.-78T>A
XP_011519642.1:n.-78T>A
XM_011521343.3:c.-340T>A
XP_011519645.1:n.-340T>A
XM_011521345.3:c.-311T>A
XP_011519647.1:n.-311T>A
NM_001387260.1:c.-76+310T>A
NP_001374189.1:n.-76+310T>A
NM_001387261.1:c.-78T>A
NP_001374190.1:n.-78T>A
NM_001387262.1:c.-346T>A
NP_001374191.1:n.-346T>A
NM_001387263.1:c.-256T>A
MANE Select
NP_001374192.1:n.-256T>A