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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.44711238C>T , CM000677.2:g.44711238C>T
GRCh38
NC_000015.9:g.45003436C>T , CM000677.1:g.45003436C>T
GRCh37
NC_000015.8:g.42790728C>T
NCBI36
NG_012920.1:g.4752C>T
NG_012920.2:g.4762C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000682850.1:c.-472G>A
MANE Select
ENSP00000508024.1:n.-472G>A
ENST00000558573.1:n.79G>A
XM_011521338.1:c.-472G>A
XP_011519640.1:n.-472G>A
XM_011521339.1:c.-353G>A
XP_011519641.1:n.-353G>A
XM_011521340.1:c.-294G>A
XP_011519642.1:n.-294G>A
XM_011521343.1:c.-556G>A
XP_011519645.1:n.-556G>A
XM_011521345.1:c.-527G>A
XP_011519647.1:n.-527G>A
XM_011521338.3:c.-472G>A
XP_011519640.1:n.-472G>A
XM_011521339.3:c.-353G>A
XP_011519641.1:n.-353G>A
XM_011521340.3:c.-294G>A
XP_011519642.1:n.-294G>A
XM_011521343.3:c.-556G>A
XP_011519645.1:n.-556G>A
XM_011521345.3:c.-527G>A
XP_011519647.1:n.-527G>A
NM_001387260.1:c.-76+94G>A
NP_001374189.1:n.-76+94G>A
NM_001387261.1:c.-294G>A
NP_001374190.1:n.-294G>A
NM_001387262.1:c.-562G>A
NP_001374191.1:n.-562G>A
NM_001387263.1:c.-472G>A
MANE Select
NP_001374192.1:n.-472G>A