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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_000014.9:g.90043942A>G , CM000676.2:g.90043942A>G
GRCh38
NC_000014.8:g.90510286A>G , CM000676.1:g.90510286A>G
GRCh37
NC_000014.7:g.89580039A>G
NCBI36
NG_009164.1:g.93041A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000335725.9:c.*799A>G
MANE Select
ENSP00000337353.4:n.*799A>G
ENST00000335725.8:c.*799A>G
ENSP00000337353.4:n.*799A>G
NM_001008744.1:c.*799A>G
NP_001008744.1:n.*799A>G
NM_018319.3:c.*799A>G
NP_060789.2:n.*799A>G
XM_005267847.2:c.*799A>G
XP_005267904.1:n.*799A>G
XM_005267848.1:c.*799A>G
XP_005267905.1:n.*799A>G
XM_006720197.2:c.*799A>G
XP_006720260.1:n.*799A>G
XM_006720198.2:c.*799A>G
XP_006720261.1:n.*799A>G
XM_006720199.1:c.*799A>G
XP_006720262.1:n.*799A>G
XM_006720200.2:c.*799A>G
XP_006720263.1:n.*799A>G
XM_011536941.1:c.*799A>G
XP_011535243.1:n.*799A>G
XM_011536942.1:c.*799A>G
XP_011535244.1:n.*799A>G
XM_011536943.1:c.*799A>G
XP_011535245.1:n.*799A>G
XM_011536944.1:c.*780A>G
XP_011535246.1:n.*780A>G
NM_001330205.1:c.*780A>G
NP_001317134.1:n.*780A>G
XM_005267848.3:c.*799A>G
XP_005267905.1:n.*799A>G
XM_006720197.4:c.*799A>G
XP_006720260.1:n.*799A>G
XM_011536942.3:c.*799A>G
XP_011535244.1:n.*799A>G
XM_011536944.2:c.*780A>G
XP_011535246.1:n.*780A>G
XM_017021439.2:c.*799A>G
XP_016876928.1:n.*799A>G
XM_017021440.2:c.*780A>G
XP_016876929.1:n.*780A>G
XM_024449649.1:c.*799A>G
XP_024305417.1:n.*799A>G
XM_024449650.1:c.*799A>G
XP_024305418.1:n.*799A>G
XM_024449651.1:c.*799A>G
XP_024305419.1:n.*799A>G
XM_024449652.1:c.*799A>G
XP_024305420.1:n.*799A>G
XM_024449653.1:c.*799A>G
XP_024305421.1:n.*799A>G
XM_024449654.1:c.*799A>G
XP_024305422.1:n.*799A>G
XM_024449655.1:c.*799A>G
XP_024305423.1:n.*799A>G
XM_024449656.1:c.*799A>G
XP_024305424.1:n.*799A>G
XM_024449657.1:c.*799A>G
XP_024305425.1:n.*799A>G
XM_024449658.1:c.*799A>G
XP_024305426.1:n.*799A>G
XM_024449659.1:c.*780A>G
XP_024305427.1:n.*780A>G
XR_001750427.2:n.2856A>G
XR_943492.3:n.3130A>G
NM_001008744.2:c.*799A>G
NP_001008744.1:n.*799A>G
NM_001330205.2:c.*780A>G
NP_001317134.1:n.*780A>G
NM_018319.4:c.*799A>G
MANE Select
NP_060789.2:n.*799A>G