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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500 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.
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.104831666T>C , CM000671.2:g.104831666T>C
GRCh38
NC_000009.11:g.107593947T>C , CM000671.1:g.107593947T>C
GRCh37
NC_000009.10:g.106633768T>C
NCBI36
NG_007981.1:g.101490A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000374736.8:c.1671A>G
MANE Select
ENSP00000363868.3:p.Arg557=
ENST00000678995.1:c.1671A>G
ENSP00000504612.1:p.Arg557=
ENST00000374736.7:c.1671A>G
ENSP00000363868.3:p.Arg557=
NM_005502.3:c.1671A>G
NP_005493.2:p.Arg557=
XM_005251773.1:c.1671A>G
XP_005251830.1:p.Arg557=
XM_005251776.1:c.1491A>G
XP_005251833.1:p.Arg497=
XM_011518339.1:c.1746A>G
XP_011516641.1:p.Arg582=
XM_011518340.1:c.1746A>G
XP_011516642.1:p.Arg582=
XM_011518341.1:c.1746A>G
XP_011516643.1:p.Arg582=
XM_011518342.1:c.1308A>G
XP_011516644.1:p.Arg436=
XM_011518343.1:c.1746A>G
XP_011516645.1:p.Arg582=
XM_011518344.1:c.1746A>G
XP_011516646.1:p.Arg582=
XM_005251773.3:c.1671A>G
XP_005251830.1:p.Arg557=
XM_005251776.3:c.1491A>G
XP_005251833.1:p.Arg497=
XM_011518339.3:c.1746A>G
XP_011516641.1:p.Arg582=
XM_011518340.3:c.1746A>G
XP_011516642.1:p.Arg582=
XM_011518341.3:c.1746A>G
XP_011516643.1:p.Arg582=
XM_011518342.3:c.1308A>G
XP_011516644.1:p.Arg436=
XM_011518344.2:c.1746A>G
XP_011516646.1:p.Arg582=
XM_017014378.2:c.1746A>G
XP_016869867.1:p.Arg582=
XM_017014379.2:c.1746A>G
XP_016869868.1:p.Arg582=
XM_017014380.2:c.1746A>G
XP_016869869.1:p.Arg582=
XM_017014381.2:c.1746A>G
XP_016869870.1:p.Arg582=
XM_017014382.2:c.1608A>G
XP_016869871.1:p.Arg536=
XR_001746223.1:n.2059A>G
NM_005502.4:c.1671A>G
MANE Select
NP_005493.2:p.Arg557=