HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94111541G>C , CM000663.2:g.94111541G>C | GRCh38 |
NC_000001.10:g.94577097G>C , CM000663.1:g.94577097G>C | GRCh37 |
NC_000001.9:g.94349685G>C | NCBI36 |
NG_009073.1:g.14609C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.199C>G MANE Select | ENSP00000359245.3:p.Leu67Val | |
ENST00000649773.1:c.199C>G | ENSP00000496882.1:p.Leu67Val | |
ENST00000370225.3:c.199C>G | ENSP00000359245.3:p.Leu67Val | |
NM_000350.2:c.199C>G | NP_000341.2:p.Leu67Val | |
NM_000350.3:c.199C>G MANE Select | NP_000341.2:p.Leu67Val |