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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_000003.12:g.39397074G>C , CM000665.2:g.39397074G>C
GRCh38
NC_000003.11:g.39438565G>C , CM000665.1:g.39438565G>C
GRCh37
NC_000003.10:g.39413569G>C
NCBI36
NG_016931.1:g.18751G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000648579.1:c.*766G>C
ENSP00000497638.1:n.*766G>C
ENST00000650617.1:c.*554G>C
MANE Select
ENSP00000497532.1:n.*554G>C
ENST00000273158.8:c.*554G>C
ENSP00000273158.3:n.*554G>C
NM_017875.2:c.*554G>C
NP_060345.2:n.*554G>C
XM_006713214.1:c.*554G>C
XP_006713277.1:n.*554G>C
XM_011533869.1:c.*554G>C
XP_011532171.1:n.*554G>C
XM_011533870.1:c.*554G>C
XP_011532172.1:n.*554G>C
XM_011533871.1:c.*554G>C
XP_011532173.1:n.*554G>C
NM_001354798.1:c.*588G>C
NP_001341727.1:n.*588G>C
NM_017875.4:c.*554G>C
MANE Select
NP_060345.2:n.*554G>C
XM_006713214.2:c.*554G>C
XP_006713277.1:n.*554G>C
XM_011533869.2:c.*554G>C
XP_011532171.1:n.*554G>C
XM_024453611.1:c.*554G>C
XP_024309379.1:n.*554G>C
NM_001354798.2:c.*588G>C
NP_001341727.1:n.*588G>C