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Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.22133609G>A , CM000685.2:g.22133609G>A
GRCh38
NC_000023.10:g.22151726G>A , CM000685.1:g.22151726G>A
GRCh37
NC_000023.9:g.22061647G>A
NCBI36
NG_007563.2:g.105806G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000684745.1:n.1063G>A
ENST00000379374.5:c.1389G>A
MANE Select
ENSP00000368682.4:p.Arg463=
ENST00000379374.4:c.1389G>A
ENSP00000368682.4:p.Arg463=
NM_000444.5:c.1389G>A
NP_000435.3:p.Arg463=
NM_001282754.1:c.1389G>A
NP_001269683.1:p.Arg463=
XM_011545533.1:c.633G>A
XP_011543835.1:p.Arg211=
XM_011545534.1:c.633G>A
XP_011543836.1:p.Arg211=
XM_011545535.1:c.1389G>A
XP_011543837.1:p.Arg463=
XM_011545536.1:c.282G>A
XP_011543838.1:p.Arg94=
XM_011545536.2:c.282G>A
XP_011543838.1:p.Arg94=
XM_017029579.1:c.633G>A
XP_016885068.1:p.Arg211=
XM_024452390.1:c.1098G>A
XP_024308158.1:p.Arg366=
XR_001755695.1:n.2068G>A
NM_000444.6:c.1389G>A
MANE Select
NP_000435.3:p.Arg463=
NM_001282754.2:c.1389G>A
NP_001269683.1:p.Arg463=