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Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.18281218T>C , CM000683.2:g.18281218T>C
GRCh38
NC_000021.8:g.19653535T>C , CM000683.1:g.19653535T>C
GRCh37
NC_000021.7:g.18575406T>C
NCBI36
NG_012207.1:g.127436A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000284885.8:c.2490A>G
MANE Select
ENSP00000284885.3:p.Arg830=
ENST00000284885.7:c.2490A>G
ENSP00000284885.3:p.Arg830=
NM_002772.2:c.2490A>G
NP_002763.2:p.Arg830=
XM_011529654.1:c.2625A>G
XP_011527956.1:p.Arg875=
XM_011529655.1:c.2625A>G
XP_011527957.1:p.Arg875=
XM_011529656.1:c.2625A>G
XP_011527958.1:p.Arg875=
XM_011529657.1:c.2580A>G
XP_011527959.1:p.Arg860=
XM_011529658.1:c.2544A>G
XP_011527960.1:p.Arg848=
XM_011529659.1:c.2535A>G
XP_011527961.1:p.Arg845=
XM_011529654.2:c.2625A>G
XP_011527956.1:p.Arg875=
XM_011529656.2:c.2625A>G
XP_011527958.1:p.Arg875=
XM_011529657.2:c.2580A>G
XP_011527959.1:p.Arg860=
XM_011529658.2:c.2544A>G
XP_011527960.1:p.Arg848=
NM_002772.3:c.2490A>G
MANE Select
NP_002763.3:p.Arg830=