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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.139472716C>T , CM000666.2:g.139472716C>T
GRCh38
NC_000004.11:g.140393870C>T , CM000666.1:g.140393870C>T
GRCh37
NC_000004.10:g.140613320C>T
NCBI36
NG_051587.1:g.24485C>T
Transcript Alleles
HGVS
Amino-acid Change
NM_031296.3:c.280C>T
MANE Select
NP_112586.1:p.Arg94Ter
ENST00000305626.6:c.280C>T
MANE Select
ENSP00000306496.5:p.Arg94Ter
NM_031296.1:c.280C>T
NP_112586.1:p.Arg94Ter
NM_031296.2:c.280C>T
NP_112586.1:p.Arg94Ter
ENST00000305626.5:c.280C>T
ENSP00000306496.5:p.Arg94Ter
ENST00000652268.1:c.424C>T
ENSP00000498778.1:p.Arg142Ter
XM_011532299.1:c.424C>T
XP_011530601.1:p.Arg142Ter