HGVS | Genome Assembly |
---|---|
NC_000002.12:g.223053069G>A , CM000664.2:g.223053069G>A | GRCh38 |
NC_000002.11:g.223917787G>A , CM000664.1:g.223917787G>A | GRCh37 |
NC_000002.10:g.223626031G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000281830.4:c.239G>A MANE Select | ENSP00000281830.5:p.Trp80Ter | |
ENST00000281830.3:c.392G>A | ENSP00000281830.4:p.Trp131Ter | |
ENST00000488477.2:n.75+795G>A | ||
NM_080671.3:c.392G>A | NP_542402.3:p.Trp131Ter | |
NM_080671.4:c.239G>A MANE Select | NP_542402.4:p.Trp80Ter |