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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_000006.12:g.36684167C= , CM000668.2:g.36684167C=
GRCh38
NC_000006.11:g.36651944C= , CM000668.1:g.36651944C=
GRCh37
NC_000006.10:g.36759922C=
NCBI36
NG_009364.1:g.10486C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000244741.10:c.66C=
MANE Select
ENSP00000244741.6:p.Phe22=
ENST00000244741.9:c.66C=
ENSP00000244741.5:p.Phe22=
ENST00000373711.3:c.66C=
ENSP00000362815.1:p.Phe22=
ENST00000405375.5:c.66C=
ENSP00000384849.1:p.Phe22=
ENST00000448526.6:c.66C=
ENSP00000409259.3:p.Phe22=
ENST00000459970.1:n.260C=
ENST00000478800.1:n.285C=
ENST00000615513.4:c.66C=
ENSP00000482768.1:p.Phe22=
NM_000389.4:c.66C=
NP_000380.1:p.Phe22=
NM_001220777.1:c.66C=
NP_001207706.1:p.Phe22=
NM_001220778.1:c.66C=
NP_001207707.1:p.Phe22=
NM_001291549.1:c.168C=
NP_001278478.1:p.Phe56=
NM_078467.2:c.66C=
NP_510867.1:p.Phe22=
NM_000389.5:c.66C=
MANE Select
NP_000380.1:p.Phe22=
NM_001220777.2:c.66C=
NP_001207706.1:p.Phe22=
NM_001220778.2:c.66C=
NP_001207707.1:p.Phe22=
NM_001291549.3:c.168C=
NP_001278478.1:p.Phe56=
NM_001374509.1:c.168C=
NP_001361438.1:p.Phe56=
NM_001374510.1:c.105C=
NP_001361439.1:p.Phe35=
NM_001374511.1:c.66C=
NP_001361440.1:p.Phe22=
NM_001374512.1:c.66C=
NP_001361441.1:p.Phe22=
NM_001374513.1:c.66C=
NP_001361442.1:p.Phe22=
NM_078467.3:c.66C=
NP_510867.1:p.Phe22=