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Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.46725705G>A , CM000682.2:g.46725705G>A
GRCh38
NC_000020.10:g.45354344G>A , CM000682.1:g.45354344G>A
GRCh37
NC_000020.9:g.44787751G>A
NCBI36
NG_016284.1:g.21066G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000359271.4:c.669G>A
MANE Select
ENSP00000352216.2:p.Arg223=
ENST00000359271.3:c.669G>A
ENSP00000352216.2:p.Arg223=
NM_030777.3:c.669G>A
NP_110404.1:p.Arg223=
XM_011529060.1:c.732G>A
XP_011527362.1:p.Arg244=
XM_011529061.1:c.678G>A
XP_011527363.1:p.Arg226=
XM_011529062.1:c.732G>A
XP_011527364.1:p.Arg244=
XM_011529063.1:c.732G>A
XP_011527365.1:p.Arg244=
XM_011529064.1:c.732G>A
XP_011527366.1:p.Arg244=
XM_011529065.1:c.732G>A
XP_011527367.1:p.Arg244=
XR_936641.1:n.868G>A
XM_011529060.2:c.732G>A
XP_011527362.1:p.Arg244=
XM_011529061.2:c.678G>A
XP_011527363.1:p.Arg226=
XM_011529062.2:c.732G>A
XP_011527364.1:p.Arg244=
XM_011529063.2:c.732G>A
XP_011527365.1:p.Arg244=
XM_011529064.2:c.732G>A
XP_011527366.1:p.Arg244=
XM_011529065.2:c.732G>A
XP_011527367.1:p.Arg244=
XM_017028087.2:c.669G>A
XP_016883576.1:p.Arg223=
XR_936641.2:n.855G>A
NM_030777.4:c.669G>A
MANE Select
NP_110404.1:p.Arg223=