HGVS | Genome Assembly |
---|---|
NC_000015.10:g.89776859C>T , CM000677.2:g.89776859C>T | GRCh38 |
NC_000015.9:g.90320090C>T , CM000677.1:g.90320090C>T | GRCh37 |
NC_000015.8:g.88121094C>T | NCBI36 |
NG_008608.1:g.5502C>T | |
NG_008608.2:g.21269C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000341735.5:c.502C>T MANE Select | ENSP00000342392.3:p.Arg168Cys | |
ENST00000341735.3:c.502C>T | ENSP00000342392.3:p.Arg168Cys | |
ENST00000558723.1:n.39-1206C>T | ||
ENST00000560219.2:c.31-1206C>T | ENSP00000452998.1:n.31-1206C>T | |
NM_001039958.1:c.502C>T | NP_001035047.1:p.Arg168Cys | |
NM_001039958.2:c.502C>T MANE Select | NP_001035047.1:p.Arg168Cys |