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Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.18281167T>G , CM000683.2:g.18281167T>G
GRCh38
NC_000021.8:g.19653484T>G , CM000683.1:g.19653484T>G
GRCh37
NC_000021.7:g.18575355T>G
NCBI36
NG_012207.1:g.127487A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000284885.8:c.2541A>C
MANE Select
ENSP00000284885.3:p.Ser847=
ENST00000284885.7:c.2541A>C
ENSP00000284885.3:p.Ser847=
NM_002772.2:c.2541A>C
NP_002763.2:p.Ser847=
XM_011529654.1:c.2676A>C
XP_011527956.1:p.Ser892=
XM_011529655.1:c.2676A>C
XP_011527957.1:p.Ser892=
XM_011529656.1:c.2676A>C
XP_011527958.1:p.Ser892=
XM_011529657.1:c.2631A>C
XP_011527959.1:p.Ser877=
XM_011529658.1:c.2595A>C
XP_011527960.1:p.Ser865=
XM_011529659.1:c.2586A>C
XP_011527961.1:p.Ser862=
XM_011529654.2:c.2676A>C
XP_011527956.1:p.Ser892=
XM_011529656.2:c.2676A>C
XP_011527958.1:p.Ser892=
XM_011529657.2:c.2631A>C
XP_011527959.1:p.Ser877=
XM_011529658.2:c.2595A>C
XP_011527960.1:p.Ser865=
NM_002772.3:c.2541A>C
MANE Select
NP_002763.3:p.Ser847=