HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173547C>G , CM000678.2:g.173547C>G | GRCh38 |
NC_000016.9:g.223546C>G , CM000678.1:g.223546C>G | GRCh37 |
NC_000016.8:g.163546C>G | NCBI36 |
NG_000006.1:g.34410C>G | |
NG_059186.1:g.1897C>G | |
NG_059271.1:g.5701C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.376C>G MANE Select | ENSP00000251595.6:p.Leu126Val | |
ENST00000251595.10:c.376C>G | ENSP00000251595.6:p.Leu126Val | |
ENST00000397806.1:c.280C>G | ENSP00000380908.1:p.Leu94Val | |
ENST00000482565.1:n.512C>G | ||
NM_000517.4:c.376C>G | NP_000508.1:p.Leu126Val | |
NM_000517.6:c.376C>G MANE Select | NP_000508.1:p.Leu126Val |