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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_000002.12:g.168944875A>G , CM000664.2:g.168944875A>G
GRCh38
NC_000002.11:g.169801385A>G , CM000664.1:g.169801385A>G
GRCh37
NC_000002.10:g.169509631A>G
NCBI36
NG_007374.1:g.91449T>C
NG_007374.2:g.91522T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000649448.1:c.747T>C
ENSP00000497165.1:p.Leu249=
ENST00000650372.1:c.2430T>C
MANE Select
ENSP00000497931.1:p.Leu810=
ENST00000263817.6:c.2430T>C
ENSP00000263817.6:p.Leu810=
ENST00000439188.1:c.1119T>C
ENSP00000416058.1:n.1119T>C
NM_003742.2:c.2430T>C
NP_003733.2:p.Leu810=
XM_006712817.2:c.2472T>C
XP_006712880.1:p.Leu824=
XM_011512077.1:c.2532T>C
XP_011510379.1:p.Leu844=
XM_011512078.1:c.2532T>C
XP_011510380.1:p.Leu844=
XM_011512079.1:c.2532T>C
XP_011510381.1:p.Leu844=
XM_011512080.1:c.2532T>C
XP_011510382.1:p.Leu844=
XM_011512081.1:c.756T>C
XP_011510383.1:p.Leu252=
NM_003742.4:c.2430T>C
MANE Select
NP_003733.2:p.Leu810=
XM_006712817.3:c.2472T>C
XP_006712880.1:p.Leu824=
XM_011512077.2:c.2532T>C
XP_011510379.1:p.Leu844=
XM_011512078.2:c.2532T>C
XP_011510380.1:p.Leu844=
XM_011512080.2:c.2532T>C
XP_011510382.1:p.Leu844=
XM_011512081.2:c.756T>C
XP_011510383.1:p.Leu252=
XM_017005165.1:c.2532T>C
XP_016860654.1:p.Leu844=
XM_017005166.1:c.1761T>C
XP_016860655.1:p.Leu587=
XM_017005167.1:c.1215T>C
XP_016860656.1:p.Leu405=