HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173487C>G , CM000678.2:g.173487C>G | GRCh38 |
NC_000016.9:g.223486C>G , CM000678.1:g.223486C>G | GRCh37 |
NC_000016.8:g.163486C>G | NCBI36 |
NG_000006.1:g.34350C>G | |
NG_059186.1:g.1837C>G | |
NG_059271.1:g.5641C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251595.11:c.316C>G MANE Select | ENSP00000251595.6:p.Leu106Val | |
ENST00000251595.10:c.316C>G | ENSP00000251595.6:p.Leu106Val | |
ENST00000397806.1:c.220C>G | ENSP00000380908.1:p.Leu74Val | |
ENST00000482565.1:n.452C>G | ||
NM_000517.4:c.316C>G | NP_000508.1:p.Leu106Val | |
NM_000517.6:c.316C>G MANE Select | NP_000508.1:p.Leu106Val |