×
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_000009.12:g.97675490G= , CM000671.2:g.97675490G=
GRCh38
NC_000009.11:g.100437772G= , CM000671.1:g.100437772G=
GRCh37
NC_000009.10:g.99477593G=
NCBI36
NG_011642.1:g.26920C= , LRG_471:g.26920C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375128.5:c.771C=
MANE Select
ENSP00000364270.5:p.Tyr257=
ENST00000375128.4:c.771C=
ENSP00000364270.4:p.Tyr257=
ENST00000462523.5:c.*207C=
ENSP00000433006.1:n.*207C=
ENST00000485042.1:n.283C=
NM_000380.3:c.771C= , LRG_471t1:c.771C=
NP_000371.1:p.Tyr257=
NR_027302.1:n.1119C=
XM_006717278.1:c.771C=
XP_006717341.1:p.Tyr257=
XM_011518988.1:c.771C=
XP_011517290.1:p.Tyr257=
NM_001354975.1:c.645C=
NP_001341904.1:p.Tyr215=
NR_149091.1:n.616C=
NR_149092.1:n.782C=
NR_149093.1:n.1308C=
NR_149094.1:n.1202C=
NM_000380.4:c.771C=
MANE Select
NP_000371.1:p.Tyr257=
NM_001354975.2:c.645C=
NP_001341904.1:p.Tyr215=
NR_027302.2:n.1050C=
NR_149091.2:n.547C=
NR_149092.2:n.713C=
NR_149093.2:n.1239C=
NR_149094.2:n.1133C=