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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500 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. This migration is underway but taking longer than originally estimated.
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.241889858A>C , CM000663.2:g.241889858A>C
GRCh38
NC_000001.10:g.242053160A>C , CM000663.1:g.242053160A>C
GRCh37
NC_000001.9:g.240119783A>C
NCBI36
NG_029100.1:g.46668A>C
NG_029100.2:g.46668A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000366548.8:c.*258A>C
MANE Select
ENSP00000355506.3:n.*258A>C
ENST00000348581.9:c.*258A>C
ENSP00000311873.5:n.*258A>C
ENST00000366548.7:c.*258A>C
ENSP00000355506.3:n.*258A>C
ENST00000518741.1:n.152-2666A>C
NM_003686.4:c.*385A>C
NP_003677.4:n.*385A>C
NM_006027.4:c.*258A>C
NP_006018.4:n.*258A>C
NM_130398.3:c.*258A>C
NP_569082.2:n.*258A>C
XM_011544321.1:c.*258A>C
XP_011542623.1:n.*258A>C
XM_011544322.1:c.*258A>C
XP_011542624.1:n.*258A>C
XR_949162.1:n.2990+4351A>C
NM_001319224.1:c.*258A>C
NP_001306153.1:n.*258A>C
XM_006711840.2:c.*258A>C
XP_006711903.1:n.*258A>C
XM_011544321.2:c.*258A>C
XP_011542623.1:n.*258A>C
XM_011544323.2:c.*258A>C
XP_011542625.1:n.*258A>C
XM_011544324.2:c.*258A>C
XP_011542626.1:n.*258A>C
XM_011544325.2:c.*258A>C
XP_011542627.1:n.*258A>C
XM_017002793.2:c.*258A>C
XP_016858282.1:n.*258A>C
NM_130398.4:c.*258A>C
MANE Select
NP_569082.2:n.*258A>C
NM_001319224.2:c.*258A>C
NP_001306153.1:n.*258A>C