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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_000012.12:g.55954021T>C , CM000674.2:g.55954021T>C
GRCh38
NC_000012.11:g.56347805T>C , CM000674.1:g.56347805T>C
GRCh37
NC_000012.10:g.54634072T>C
NCBI36
NG_028086.1:g.17692A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000331886.10:c.*253T>C
MANE Select
ENSP00000328405.5:n.*253T>C
ENST00000394147.5:c.*253T>C
ENSP00000377703.1:n.*253T>C
ENST00000402956.7:c.*1628T>C
ENSP00000385792.3:n.*1628T>C
ENST00000551156.5:c.*253T>C
ENSP00000450359.1:n.*253T>C
ENST00000551296.5:n.4076T>C
ENST00000552478.5:n.5436T>C
NM_001345.4:c.*253T>C
NP_001336.2:n.*253T>C
NM_201444.2:c.*253T>C
NP_958852.1:n.*253T>C
NM_201445.1:c.*253T>C
NP_958853.1:n.*253T>C
NM_201554.1:c.*253T>C
NP_963848.1:n.*253T>C
XM_005268688.1:c.*253T>C
XP_005268745.1:n.*253T>C
XM_005268689.1:c.*253T>C
XP_005268746.1:n.*253T>C
XM_005268690.1:c.*253T>C
XP_005268747.1:n.*253T>C
XM_011537990.1:c.*253T>C
XP_011536292.1:n.*253T>C
XM_011537991.1:c.*253T>C
XP_011536293.1:n.*253T>C
XM_011537992.1:c.*253T>C
XP_011536294.1:n.*253T>C
XM_011537993.1:c.*253T>C
XP_011536295.1:n.*253T>C
XM_011537994.1:c.*253T>C
XP_011536296.1:n.*253T>C
XM_011537995.1:c.*253T>C
XP_011536297.1:n.*253T>C
XR_429084.2:n.2602T>C
NM_001351033.1:c.*253T>C
NP_001337962.1:n.*253T>C
NM_001351034.1:c.*253T>C
NP_001337963.1:n.*253T>C
NM_001351035.1:c.*253T>C
NP_001337964.1:n.*253T>C
NM_001351036.1:c.*253T>C
NP_001337965.1:n.*253T>C
NM_001351037.1:c.*253T>C
NP_001337966.1:n.*253T>C
NM_001351038.1:c.*253T>C
NP_001337967.1:n.*253T>C
NM_001351039.1:c.*253T>C
NP_001337968.1:n.*253T>C
NM_001351040.1:c.*253T>C
NP_001337969.1:n.*253T>C
NR_147026.1:n.2760T>C
NR_147027.1:n.3003T>C
XM_005268689.2:c.*253T>C
XP_005268746.1:n.*253T>C
XM_011537993.2:c.*253T>C
XP_011536295.1:n.*253T>C
XM_011537995.2:c.*253T>C
XP_011536297.1:n.*253T>C
XM_017018900.1:c.*253T>C
XP_016874389.1:n.*253T>C
XM_017018901.2:c.*253T>C
XP_016874390.1:n.*253T>C
XM_017018902.1:c.*253T>C
XP_016874391.1:n.*253T>C
XM_017018903.1:c.*253T>C
XP_016874392.1:n.*253T>C
XM_017018904.1:c.*253T>C
XP_016874393.1:n.*253T>C
XM_017018905.1:c.*253T>C
XP_016874394.1:n.*253T>C
XM_017018906.2:c.*253T>C
XP_016874395.1:n.*253T>C
XM_017018907.1:c.*253T>C
XP_016874396.1:n.*253T>C
XM_017018908.1:c.*253T>C
XP_016874397.1:n.*253T>C
XR_001748602.1:n.2956T>C
XR_002957293.1:n.3143T>C
XR_002957294.1:n.2789T>C
NM_001345.5:c.*253T>C
MANE Select
NP_001336.2:n.*253T>C
NM_001351033.2:c.*253T>C
NP_001337962.1:n.*253T>C
NM_001351034.2:c.*253T>C
NP_001337963.1:n.*253T>C
NM_001351036.2:c.*253T>C
NP_001337965.1:n.*253T>C
NM_001351038.2:c.*253T>C
NP_001337967.1:n.*253T>C
NM_001351039.2:c.*253T>C
NP_001337968.1:n.*253T>C
NM_001351040.2:c.*253T>C
NP_001337969.1:n.*253T>C
NM_201444.3:c.*253T>C
NP_958852.1:n.*253T>C
NM_201445.2:c.*253T>C
NP_958853.1:n.*253T>C
NM_201554.2:c.*253T>C
NP_963848.1:n.*253T>C
NR_147026.2:n.2725T>C
NR_147027.2:n.2968T>C