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Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.44907813C= , CM000681.2:g.44907813C=
GRCh38
NC_000019.9:g.45411070C= , CM000681.1:g.45411070C=
GRCh37
NC_000019.8:g.50102910C=
NCBI36
NG_007084.2:g.7032C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000252486.9:c.97C=
MANE Select
ENSP00000252486.3:p.Arg33=
ENST00000252486.8:c.97C=
ENSP00000252486.3:p.Arg33=
ENST00000425718.1:c.97C=
ENSP00000410423.1:p.Arg33=
ENST00000434152.5:c.175C=
ENSP00000413653.2:p.Arg59=
ENST00000446996.5:c.97C=
ENSP00000413135.1:p.Arg33=
NM_000041.3:c.97C=
NP_000032.1:p.Arg33=
NM_001302688.1:c.175C=
NP_001289617.1:p.Arg59=
NM_001302689.1:c.97C=
NP_001289618.1:p.Arg33=
NM_001302690.1:c.97C=
NP_001289619.1:p.Arg33=
NM_001302691.1:c.97C=
NP_001289620.1:p.Arg33=
NM_000041.4:c.97C=
MANE Select
NP_000032.1:p.Arg33=
NM_001302688.2:c.175C=
NP_001289617.1:p.Arg59=
NM_001302689.2:c.97C=
NP_001289618.1:p.Arg33=
NM_001302691.2:c.97C=
NP_001289620.1:p.Arg33=
NM_001302690.2:c.97C=
NP_001289619.1:p.Arg33=