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Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.21978916C>A , CM000685.2:g.21978916C>A
GRCh38
NC_000023.10:g.21997034C>A , CM000685.1:g.21997034C>A
GRCh37
NC_000023.9:g.21906955C>A
NCBI36
NG_009228.1:g.43193C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000404933.7:c.700C>A
MANE Select
ENSP00000385746.2:p.Arg234=
ENST00000379404.5:c.541C>A
ENSP00000368714.1:p.Arg181=
ENST00000404933.6:c.700C>A
ENSP00000385746.2:p.Arg234=
NM_001258423.1:c.541C>A
NP_001245352.1:p.Arg181=
NM_004595.4:c.700C>A
NP_004586.2:p.Arg234=
XM_005274582.1:c.598C>A
XP_005274639.1:p.Arg200=
XM_011545568.1:c.598C>A
XP_011543870.1:p.Arg200=
XM_005274582.2:c.598C>A
XP_005274639.1:p.Arg200=
XM_011545568.2:c.598C>A
XP_011543870.1:p.Arg200=
XM_017029753.2:c.700C>A
XP_016885242.1:p.Arg234=
XM_017029754.1:c.598C>A
XP_016885243.1:p.Arg200=
XM_017029755.1:c.598C>A
XP_016885244.1:p.Arg200=
XM_024452427.1:c.598C>A
XP_024308195.1:p.Arg200=
NM_004595.5:c.700C>A
MANE Select
NP_004586.2:p.Arg234=
NM_001258423.2:c.541C>A
NP_001245352.1:p.Arg181=