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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_000006.12:g.31354481T= , CM000668.2:g.31354481T=
GRCh38
NC_000006.11:g.31322258T= , CM000668.1:g.31322258T=
GRCh37
NC_000006.10:g.31430237T=
NCBI36
NG_023187.1:g.7732A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000474381.2:n.3138A=
ENST00000481849.6:n.3098A=
ENST00000497377.6:n.3005A=
ENST00000696558.1:c.1160A=
ENSP00000512716.1:n.1160A=
ENST00000696559.1:c.*2A=
ENSP00000512717.1:n.*2A=
ENST00000696560.1:c.*2A=
ENSP00000512718.1:n.*2A=
ENST00000696561.1:c.*2A=
ENSP00000512719.1:n.*2A=
ENST00000696562.1:c.*2A=
ENSP00000512720.1:n.*2A=
ENST00000412585.7:c.*2A=
MANE Select
ENSP00000399168.2:n.*2A=
ENST00000412585.6:c.*2A=
ENSP00000399168.2:n.*2A=
ENST00000481849.5:n.326A=
ENST00000497377.5:n.490A=
NM_005514.6:c.*2A=
NP_005505.2:n.*2A=
XM_011514556.1:c.*2A=
XP_011512858.1:n.*2A=
XM_011514557.1:c.*2A=
XP_011512859.1:n.*2A=
XR_926175.1:n.1530A=
NM_005514.7:c.*2A=
NP_005505.2:n.*2A=
NM_005514.8:c.*2A=
MANE Select
NP_005505.2:n.*2A=