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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.219172898T>G , CM000664.2:g.219172898T>G
GRCh38
NC_000002.11:g.220037620T>G , CM000664.1:g.220037620T>G
GRCh37
NC_000002.10:g.219745864T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000360507.10:c.921A>C
MANE Select
ENSP00000353698.5:p.Ser307=
ENST00000360507.9:c.921A>C
ENSP00000353698.5:p.Ser307=
ENST00000409789.5:c.921A>C
ENSP00000386277.1:p.Ser307=
ENST00000453038.5:c.921A>C
ENSP00000410109.1:p.Ser307=
NM_015680.4:c.921A>C
NP_056495.3:p.Ser307=
XM_005246462.2:c.921A>C
XP_005246519.1:p.Ser307=
XM_005246463.3:c.921A>C
XP_005246520.1:p.Ser307=
XM_006712419.1:c.921A>C
XP_006712482.1:p.Ser307=
NM_001321389.1:c.921A>C
NP_001308318.1:p.Ser307=
NM_001321390.1:c.921A>C
NP_001308319.1:p.Ser307=
NM_001321391.1:c.921A>C
NP_001308320.1:p.Ser307=
NM_015680.5:c.921A>C
NP_056495.3:p.Ser307=
NR_135628.1:n.966A>C
NR_135629.1:n.1024A>C
XM_024452790.1:c.951A>C
XP_024308558.1:p.Ser317=
NM_015680.6:c.921A>C
MANE Select
NP_056495.4:p.Ser307=
NM_001321390.2:c.921A>C
NP_001308319.2:p.Ser307=
NM_001321391.2:c.921A>C
NP_001308320.2:p.Ser307=
NR_135628.2:n.949A>C
NR_135629.2:n.956A>C
NM_001321389.2:c.921A>C
NP_001308318.2:p.Ser307=