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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.44711083C>A , CM000677.2:g.44711083C>A
GRCh38
NC_000015.9:g.45003281C>A , CM000677.1:g.45003281C>A
GRCh37
NC_000015.8:g.42790573C>A
NCBI36
NG_012920.1:g.4597C>A
NG_012920.2:g.4607C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000682850.1:c.-317G>T
MANE Select
ENSP00000508024.1:n.-317G>T
ENST00000558573.1:n.234G>T
XM_011521338.1:c.-317G>T
XP_011519640.1:n.-317G>T
XM_011521339.1:c.-198G>T
XP_011519641.1:n.-198G>T
XM_011521340.1:c.-139G>T
XP_011519642.1:n.-139G>T
XM_011521343.1:c.-401G>T
XP_011519645.1:n.-401G>T
XM_011521345.1:c.-372G>T
XP_011519647.1:n.-372G>T
XM_011521338.3:c.-317G>T
XP_011519640.1:n.-317G>T
XM_011521339.3:c.-198G>T
XP_011519641.1:n.-198G>T
XM_011521340.3:c.-139G>T
XP_011519642.1:n.-139G>T
XM_011521343.3:c.-401G>T
XP_011519645.1:n.-401G>T
XM_011521345.3:c.-372G>T
XP_011519647.1:n.-372G>T
NM_001387260.1:c.-76+249G>T
NP_001374189.1:n.-76+249G>T
NM_001387261.1:c.-139G>T
NP_001374190.1:n.-139G>T
NM_001387262.1:c.-407G>T
NP_001374191.1:n.-407G>T
NM_001387263.1:c.-317G>T
MANE Select
NP_001374192.1:n.-317G>T