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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.139454330C>G , CM000666.2:g.139454330C>G
GRCh38
NC_000004.11:g.140375484C>G , CM000666.1:g.140375484C>G
GRCh37
NC_000004.10:g.140594934C>G
NCBI36
NG_051587.1:g.6099C>G
Transcript Alleles
HGVS
Amino-acid Change
NM_031296.3:c.135C>G
MANE Select
NP_112586.1:p.Gly45=
ENST00000305626.6:c.135C>G
MANE Select
ENSP00000306496.5:p.Gly45=
NM_031296.1:c.135C>G
NP_112586.1:p.Gly45=
NM_031296.2:c.135C>G
NP_112586.1:p.Gly45=
ENST00000305626.5:c.135C>G
ENSP00000306496.5:p.Gly45=
ENST00000652268.1:c.279C>G
ENSP00000498778.1:p.Gly93=
XM_011532299.1:c.279C>G
XP_011530601.1:p.Gly93=