HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74750135T>C , CM000677.2:g.74750135T>C | GRCh38 |
NC_000015.9:g.75042476T>C , CM000677.1:g.75042476T>C | GRCh37 |
NC_000015.8:g.72829529T>C | NCBI36 |
NG_008431.1:g.32594T>C | |
NG_008431.2:g.32594T>C | |
NG_061543.1:g.6291T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000343932.5:c.397T>C MANE Select | ENSP00000342007.4:p.Trp133Arg | |
ENST00000343932.4:c.397T>C | ENSP00000342007.4:p.Trp133Arg | |
NM_000761.4:c.397T>C | NP_000752.2:p.Trp133Arg | |
NM_000761.5:c.397T>C MANE Select | NP_000752.2:p.Trp133Arg |