×
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.44711034A>C , CM000677.2:g.44711034A>C
GRCh38
NC_000015.9:g.45003232A>C , CM000677.1:g.45003232A>C
GRCh37
NC_000015.8:g.42790524A>C
NCBI36
NG_012920.1:g.4548A>C
NG_012920.2:g.4558A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000682850.1:c.-268T>G
MANE Select
ENSP00000508024.1:n.-268T>G
ENST00000558573.1:n.283T>G
XM_011521338.1:c.-268T>G
XP_011519640.1:n.-268T>G
XM_011521339.1:c.-149T>G
XP_011519641.1:n.-149T>G
XM_011521340.1:c.-90T>G
XP_011519642.1:n.-90T>G
XM_011521343.1:c.-352T>G
XP_011519645.1:n.-352T>G
XM_011521345.1:c.-323T>G
XP_011519647.1:n.-323T>G
XM_011521338.3:c.-268T>G
XP_011519640.1:n.-268T>G
XM_011521339.3:c.-149T>G
XP_011519641.1:n.-149T>G
XM_011521340.3:c.-90T>G
XP_011519642.1:n.-90T>G
XM_011521343.3:c.-352T>G
XP_011519645.1:n.-352T>G
XM_011521345.3:c.-323T>G
XP_011519647.1:n.-323T>G
NM_001387260.1:c.-76+298T>G
NP_001374189.1:n.-76+298T>G
NM_001387261.1:c.-90T>G
NP_001374190.1:n.-90T>G
NM_001387262.1:c.-358T>G
NP_001374191.1:n.-358T>G
NM_001387263.1:c.-268T>G
MANE Select
NP_001374192.1:n.-268T>G