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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.44711240C>G , CM000677.2:g.44711240C>G
GRCh38
NC_000015.9:g.45003438C>G , CM000677.1:g.45003438C>G
GRCh37
NC_000015.8:g.42790730C>G
NCBI36
NG_012920.1:g.4754C>G
NG_012920.2:g.4764C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000682850.1:c.-474G>C
MANE Select
ENSP00000508024.1:n.-474G>C
ENST00000558573.1:n.77G>C
XM_011521338.1:c.-474G>C
XP_011519640.1:n.-474G>C
XM_011521339.1:c.-355G>C
XP_011519641.1:n.-355G>C
XM_011521340.1:c.-296G>C
XP_011519642.1:n.-296G>C
XM_011521343.1:c.-558G>C
XP_011519645.1:n.-558G>C
XM_011521345.1:c.-529G>C
XP_011519647.1:n.-529G>C
XM_011521338.3:c.-474G>C
XP_011519640.1:n.-474G>C
XM_011521339.3:c.-355G>C
XP_011519641.1:n.-355G>C
XM_011521340.3:c.-296G>C
XP_011519642.1:n.-296G>C
XM_011521343.3:c.-558G>C
XP_011519645.1:n.-558G>C
XM_011521345.3:c.-529G>C
XP_011519647.1:n.-529G>C
NM_001387260.1:c.-76+92G>C
NP_001374189.1:n.-76+92G>C
NM_001387261.1:c.-296G>C
NP_001374190.1:n.-296G>C
NM_001387262.1:c.-564G>C
NP_001374191.1:n.-564G>C
NM_001387263.1:c.-474G>C
MANE Select
NP_001374192.1:n.-474G>C