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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_000004.12:g.23814109G>A , CM000666.2:g.23814109G>A
GRCh38
NC_000004.11:g.23815732G>A , CM000666.1:g.23815732G>A
GRCh37
NC_000004.10:g.23424830G>A
NCBI36
NG_028250.1:g.80969C>T
NG_028250.2:g.663867C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264867.7:c.1374C>T
MANE Select
ENSP00000264867.2:p.Ile458=
ENST00000264867.6:c.1374C>T
ENSP00000264867.2:p.Ile458=
ENST00000506055.5:c.*589C>T
ENSP00000423075.1:n.*589C>T
ENST00000509702.5:n.1414C>T
ENST00000613098.4:c.993C>T
ENSP00000481498.1:p.Ile331=
NM_013261.3:c.1374C>T
NP_037393.1:p.Ile458=
XM_005248130.2:c.1389C>T
XP_005248187.1:p.Ile463=
XM_005248131.3:c.1386C>T
XP_005248188.1:p.Ile462=
XM_005248132.1:c.1365C>T
XP_005248189.1:p.Ile455=
XM_005248134.3:c.1389C>T
XP_005248191.1:p.Ile463=
XM_011513764.1:c.1374C>T
XP_011512066.1:p.Ile458=
XM_011513765.1:c.1338C>T
XP_011512067.1:p.Ile446=
XM_011513766.1:c.1269C>T
XP_011512068.1:p.Ile423=
XM_011513767.1:c.1269C>T
XP_011512069.1:p.Ile423=
XM_011513768.1:c.1269C>T
XP_011512070.1:p.Ile423=
XM_011513769.1:c.1389C>T
XP_011512071.1:p.Ile463=
XM_011513770.1:c.993C>T
XP_011512072.1:p.Ile331=
XM_011513771.1:c.993C>T
XP_011512073.1:p.Ile331=
NM_001330751.1:c.1389C>T
NP_001317680.1:p.Ile463=
NM_001330752.1:c.1338C>T
NP_001317681.1:p.Ile446=
NM_001330753.1:c.993C>T
NP_001317682.1:p.Ile331=
NM_001354825.1:c.1389C>T
NP_001341754.1:p.Ile463=
NM_001354826.1:c.993C>T
NP_001341755.1:p.Ile331=
NM_001354827.1:c.1389C>T
NP_001341756.1:p.Ile463=
NM_013261.4:c.1374C>T
NP_037393.1:p.Ile458=
NR_148981.1:n.1901C>T
NR_148982.1:n.1974C>T
NR_148983.1:n.2127C>T
NR_148984.1:n.1525C>T
NR_148985.1:n.2039C>T
NR_148986.1:n.2044C>T
NR_148987.1:n.2126C>T
XM_005248131.5:c.1386C>T
XP_005248188.1:p.Ile462=
XM_005248134.4:c.1389C>T
XP_005248191.1:p.Ile463=
XM_011513769.2:c.1389C>T
XP_011512071.1:p.Ile463=
XM_024453878.1:c.1389C>T
XP_024309646.1:p.Ile463=
NM_013261.5:c.1374C>T
MANE Select
NP_037393.1:p.Ile458=
NM_001330751.2:c.1389C>T
NP_001317680.1:p.Ile463=
NM_001330752.2:c.1338C>T
NP_001317681.1:p.Ile446=
NM_001354825.2:c.1389C>T
NP_001341754.1:p.Ile463=
NM_001354826.2:c.993C>T
NP_001341755.1:p.Ile331=
NM_001354827.2:c.1389C>T
NP_001341756.1:p.Ile463=
NR_148981.2:n.1977C>T
NR_148982.2:n.2050C>T
NR_148983.2:n.2203C>T
NR_148984.2:n.1495C>T
NR_148985.2:n.2115C>T
NR_148986.2:n.2120C>T
NR_148987.2:n.2202C>T
NM_001330753.2:c.993C>T
NP_001317682.1:p.Ile331=