HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173485G= , CM000678.2:g.173485G= | GRCh38 |
NC_000016.9:g.223484G= , CM000678.1:g.223484G= | GRCh37 |
NC_000016.8:g.163484G= | NCBI36 |
NG_000006.1:g.34348G= | |
NG_059186.1:g.1835G= | |
NG_059271.1:g.5639G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.314G= MANE Select | ENSP00000251595.6:p.Cys105= | |
ENST00000251595.10:c.314G= | ENSP00000251595.6:p.Cys105= | |
ENST00000397806.1:c.218G= | ENSP00000380908.1:p.Cys73= | |
ENST00000482565.1:n.450G= | ||
NM_000517.4:c.314G= | NP_000508.1:p.Cys105= | |
NM_000517.6:c.314G= MANE Select | NP_000508.1:p.Cys105= |