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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.23814097C>T , CM000666.2:g.23814097C>T
GRCh38
NC_000004.11:g.23815720C>T , CM000666.1:g.23815720C>T
GRCh37
NC_000004.10:g.23424818C>T
NCBI36
NG_028250.1:g.80981G>A
NG_028250.2:g.663879G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264867.7:c.1386G>A
MANE Select
ENSP00000264867.2:p.Leu462=
ENST00000264867.6:c.1386G>A
ENSP00000264867.2:p.Leu462=
ENST00000506055.5:c.*601G>A
ENSP00000423075.1:n.*601G>A
ENST00000509702.5:n.1426G>A
ENST00000613098.4:c.1005G>A
ENSP00000481498.1:p.Leu335=
NM_013261.3:c.1386G>A
NP_037393.1:p.Leu462=
XM_005248130.2:c.1401G>A
XP_005248187.1:p.Leu467=
XM_005248131.3:c.1398G>A
XP_005248188.1:p.Leu466=
XM_005248132.1:c.1377G>A
XP_005248189.1:p.Leu459=
XM_005248134.3:c.1401G>A
XP_005248191.1:p.Leu467=
XM_011513764.1:c.1386G>A
XP_011512066.1:p.Leu462=
XM_011513765.1:c.1350G>A
XP_011512067.1:p.Leu450=
XM_011513766.1:c.1281G>A
XP_011512068.1:p.Leu427=
XM_011513767.1:c.1281G>A
XP_011512069.1:p.Leu427=
XM_011513768.1:c.1281G>A
XP_011512070.1:p.Leu427=
XM_011513769.1:c.1401G>A
XP_011512071.1:p.Leu467=
XM_011513770.1:c.1005G>A
XP_011512072.1:p.Leu335=
XM_011513771.1:c.1005G>A
XP_011512073.1:p.Leu335=
NM_001330751.1:c.1401G>A
NP_001317680.1:p.Leu467=
NM_001330752.1:c.1350G>A
NP_001317681.1:p.Leu450=
NM_001330753.1:c.1005G>A
NP_001317682.1:p.Leu335=
NM_001354825.1:c.1401G>A
NP_001341754.1:p.Leu467=
NM_001354826.1:c.1005G>A
NP_001341755.1:p.Leu335=
NM_001354827.1:c.1401G>A
NP_001341756.1:p.Leu467=
NM_013261.4:c.1386G>A
NP_037393.1:p.Leu462=
NR_148981.1:n.1913G>A
NR_148982.1:n.1986G>A
NR_148983.1:n.2139G>A
NR_148984.1:n.1537G>A
NR_148985.1:n.2051G>A
NR_148986.1:n.2056G>A
NR_148987.1:n.2138G>A
XM_005248131.5:c.1398G>A
XP_005248188.1:p.Leu466=
XM_005248134.4:c.1401G>A
XP_005248191.1:p.Leu467=
XM_011513769.2:c.1401G>A
XP_011512071.1:p.Leu467=
XM_024453878.1:c.1401G>A
XP_024309646.1:p.Leu467=
NM_013261.5:c.1386G>A
MANE Select
NP_037393.1:p.Leu462=
NM_001330751.2:c.1401G>A
NP_001317680.1:p.Leu467=
NM_001330752.2:c.1350G>A
NP_001317681.1:p.Leu450=
NM_001354825.2:c.1401G>A
NP_001341754.1:p.Leu467=
NM_001354826.2:c.1005G>A
NP_001341755.1:p.Leu335=
NM_001354827.2:c.1401G>A
NP_001341756.1:p.Leu467=
NR_148981.2:n.1989G>A
NR_148982.2:n.2062G>A
NR_148983.2:n.2215G>A
NR_148984.2:n.1507G>A
NR_148985.2:n.2127G>A
NR_148986.2:n.2132G>A
NR_148987.2:n.2214G>A
NM_001330753.2:c.1005G>A
NP_001317682.1:p.Leu335=