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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.139472926C>T , CM000666.2:g.139472926C>T
GRCh38
NC_000004.11:g.140394080C>T , CM000666.1:g.140394080C>T
GRCh37
NC_000004.10:g.140613530C>T
NCBI36
NG_051587.1:g.24695C>T
Transcript Alleles
HGVS
Amino-acid Change
NM_031296.3:c.490C>T
MANE Select
NP_112586.1:p.Gln164Ter
ENST00000305626.6:c.490C>T
MANE Select
ENSP00000306496.5:p.Gln164Ter
NM_031296.1:c.490C>T
NP_112586.1:p.Gln164Ter
NM_031296.2:c.490C>T
NP_112586.1:p.Gln164Ter
ENST00000305626.5:c.490C>T
ENSP00000306496.5:p.Gln164Ter
ENST00000652268.1:c.634C>T
ENSP00000498778.1:p.Gln212Ter
XM_011532299.1:c.634C>T
XP_011530601.1:p.Gln212Ter