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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_000012.12:g.53211392C>A , CM000674.2:g.53211392C>A
GRCh38
NC_000012.11:g.53605176C>A , CM000674.1:g.53605176C>A
GRCh37
NC_000012.10:g.51891443C>A
NCBI36
NG_029822.1:g.25865G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000425354.7:c.*284G>T
MANE Select
ENSP00000388510.2:n.*284G>T
ENST00000338561.9:c.*284G>T
ENSP00000343698.5:n.*284G>T
ENST00000394426.5:c.*284G>T
ENSP00000377947.2:n.*284G>T
ENST00000425354.6:c.*284G>T
ENSP00000388510.2:n.*284G>T
NM_000966.5:c.*284G>T
NP_000957.1:n.*284G>T
NM_001042728.2:c.*284G>T
NP_001036193.1:n.*284G>T
NM_001243730.1:c.*284G>T
NP_001230659.1:n.*284G>T
NM_001243731.1:c.*284G>T
NP_001230660.1:n.*284G>T
NM_001243732.1:c.*284G>T
NP_001230661.1:n.*284G>T
XM_005269054.2:c.*284G>T
XP_005269111.1:n.*284G>T
XM_005269055.2:c.*284G>T
XP_005269112.1:n.*284G>T
XM_005269056.2:c.*284G>T
XP_005269113.1:n.*284G>T
XM_005269057.1:c.*284G>T
XP_005269114.1:n.*284G>T
XM_011538628.1:c.*284G>T
XP_011536930.1:n.*284G>T
XM_024449112.1:c.*284G>T
XP_024304880.1:n.*284G>T
XM_024449113.1:c.*284G>T
XP_024304881.1:n.*284G>T
XM_024449114.1:c.*284G>T
XP_024304882.1:n.*284G>T
NM_000966.6:c.*284G>T
MANE Select
NP_000957.1:n.*284G>T
NM_001042728.3:c.*284G>T
NP_001036193.1:n.*284G>T
NM_001243731.2:c.*284G>T
NP_001230660.1:n.*284G>T
NM_001243732.2:c.*284G>T
NP_001230661.1:n.*284G>T
NM_001243730.2:c.*284G>T
NP_001230659.1:n.*284G>T