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Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.1780611A>G , CM000674.2:g.1780611A>G
GRCh38
NC_000012.11:g.1889777A>G , CM000674.1:g.1889777A>G
GRCh37
NC_000012.10:g.1760038A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000357103.5:c.624A>G
MANE Select
ENSP00000349616.4:p.Ser208=
ENST00000357103.4:c.624A>G
ENSP00000349616.4:p.Ser208=
ENST00000537190.1:n.464A>G
NM_024551.2:c.624A>G
NP_078827.2:p.Ser208=
XM_005253789.1:c.624A>G
XP_005253846.1:p.Ser208=
XM_006719018.1:c.624A>G
XP_006719081.1:p.Ser208=
XM_011521024.1:c.624A>G
XP_011519326.1:p.Ser208=
XM_011521025.1:c.463+2586A>G
XP_011519327.1:n.463+2586A>G
XM_005253789.2:c.624A>G
XP_005253846.1:p.Ser208=
XM_006719018.2:c.624A>G
XP_006719081.1:p.Ser208=
XM_011521024.2:c.624A>G
XP_011519326.1:p.Ser208=
NM_024551.3:c.624A>G
MANE Select
NP_078827.2:p.Ser208=
NM_001375363.1:c.624A>G
NP_001362292.1:p.Ser208=
NM_001375364.1:c.624A>G
NP_001362293.1:p.Ser208=
NM_001375365.1:c.624A>G
NP_001362294.1:p.Ser208=