×
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.39397086C>T , CM000665.2:g.39397086C>T
GRCh38
NC_000003.11:g.39438577C>T , CM000665.1:g.39438577C>T
GRCh37
NC_000003.10:g.39413581C>T
NCBI36
NG_016931.1:g.18763C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000648579.1:c.*778C>T
ENSP00000497638.1:n.*778C>T
ENST00000650617.1:c.*566C>T
MANE Select
ENSP00000497532.1:n.*566C>T
ENST00000273158.8:c.*566C>T
ENSP00000273158.3:n.*566C>T
NM_017875.2:c.*566C>T
NP_060345.2:n.*566C>T
XM_006713214.1:c.*566C>T
XP_006713277.1:n.*566C>T
XM_011533869.1:c.*566C>T
XP_011532171.1:n.*566C>T
XM_011533870.1:c.*566C>T
XP_011532172.1:n.*566C>T
XM_011533871.1:c.*566C>T
XP_011532173.1:n.*566C>T
NM_001354798.1:c.*600C>T
NP_001341727.1:n.*600C>T
NM_017875.4:c.*566C>T
MANE Select
NP_060345.2:n.*566C>T
XM_006713214.2:c.*566C>T
XP_006713277.1:n.*566C>T
XM_011533869.2:c.*566C>T
XP_011532171.1:n.*566C>T
XM_024453611.1:c.*566C>T
XP_024309379.1:n.*566C>T
NM_001354798.2:c.*600C>T
NP_001341727.1:n.*600C>T