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Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.1780623T>C , CM000674.2:g.1780623T>C
GRCh38
NC_000012.11:g.1889789T>C , CM000674.1:g.1889789T>C
GRCh37
NC_000012.10:g.1760050T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000357103.5:c.636T>C
MANE Select
ENSP00000349616.4:p.Ser212=
ENST00000357103.4:c.636T>C
ENSP00000349616.4:p.Ser212=
ENST00000537190.1:n.476T>C
NM_024551.2:c.636T>C
NP_078827.2:p.Ser212=
XM_005253789.1:c.636T>C
XP_005253846.1:p.Ser212=
XM_006719018.1:c.636T>C
XP_006719081.1:p.Ser212=
XM_011521024.1:c.636T>C
XP_011519326.1:p.Ser212=
XM_011521025.1:c.463+2598T>C
XP_011519327.1:n.463+2598T>C
XM_005253789.2:c.636T>C
XP_005253846.1:p.Ser212=
XM_006719018.2:c.636T>C
XP_006719081.1:p.Ser212=
XM_011521024.2:c.636T>C
XP_011519326.1:p.Ser212=
NM_024551.3:c.636T>C
MANE Select
NP_078827.2:p.Ser212=
NM_001375363.1:c.636T>C
NP_001362292.1:p.Ser212=
NM_001375364.1:c.636T>C
NP_001362293.1:p.Ser212=
NM_001375365.1:c.636T>C
NP_001362294.1:p.Ser212=