HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173485G>T , CM000678.2:g.173485G>T | GRCh38 |
NC_000016.9:g.223484G>T , CM000678.1:g.223484G>T | GRCh37 |
NC_000016.8:g.163484G>T | NCBI36 |
NG_000006.1:g.34348G>T | |
NG_059186.1:g.1835G>T | |
NG_059271.1:g.5639G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.314G>T MANE Select | ENSP00000251595.6:p.Cys105Phe | |
ENST00000251595.10:c.314G>T | ENSP00000251595.6:p.Cys105Phe | |
ENST00000397806.1:c.218G>T | ENSP00000380908.1:p.Cys73Phe | |
ENST00000482565.1:n.450G>T | ||
NM_000517.4:c.314G>T | NP_000508.1:p.Cys105Phe | |
NM_000517.6:c.314G>T MANE Select | NP_000508.1:p.Cys105Phe |