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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.139454406C>T , CM000666.2:g.139454406C>T
GRCh38
NC_000004.11:g.140375560C>T , CM000666.1:g.140375560C>T
GRCh37
NC_000004.10:g.140595010C>T
NCBI36
NG_051587.1:g.6175C>T
Transcript Alleles
HGVS
Amino-acid Change
NM_031296.3:c.211C>T
MANE Select
NP_112586.1:p.Arg71Ter
ENST00000305626.6:c.211C>T
MANE Select
ENSP00000306496.5:p.Arg71Ter
NM_031296.1:c.211C>T
NP_112586.1:p.Arg71Ter
NM_031296.2:c.211C>T
NP_112586.1:p.Arg71Ter
ENST00000305626.5:c.211C>T
ENSP00000306496.5:p.Arg71Ter
ENST00000652268.1:c.355C>T
ENSP00000498778.1:p.Arg119Ter
XM_011532299.1:c.355C>T
XP_011530601.1:p.Arg119Ter