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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.44711020C>G , CM000677.2:g.44711020C>G
GRCh38
NC_000015.9:g.45003218C>G , CM000677.1:g.45003218C>G
GRCh37
NC_000015.8:g.42790510C>G
NCBI36
NG_012920.1:g.4534C>G
NG_012920.2:g.4544C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000682850.1:c.-254G>C
MANE Select
ENSP00000508024.1:n.-254G>C
ENST00000558573.1:n.297G>C
XM_011521338.1:c.-254G>C
XP_011519640.1:n.-254G>C
XM_011521339.1:c.-135G>C
XP_011519641.1:n.-135G>C
XM_011521340.1:c.-76G>C
XP_011519642.1:n.-76G>C
XM_011521343.1:c.-338G>C
XP_011519645.1:n.-338G>C
XM_011521345.1:c.-309G>C
XP_011519647.1:n.-309G>C
XM_011521338.3:c.-254G>C
XP_011519640.1:n.-254G>C
XM_011521339.3:c.-135G>C
XP_011519641.1:n.-135G>C
XM_011521340.3:c.-76G>C
XP_011519642.1:n.-76G>C
XM_011521343.3:c.-338G>C
XP_011519645.1:n.-338G>C
XM_011521345.3:c.-309G>C
XP_011519647.1:n.-309G>C
NM_001387260.1:c.-76+312G>C
NP_001374189.1:n.-76+312G>C
NM_001387261.1:c.-76G>C
NP_001374190.1:n.-76G>C
NM_001387262.1:c.-344G>C
NP_001374191.1:n.-344G>C
NM_001387263.1:c.-254G>C
MANE Select
NP_001374192.1:n.-254G>C