HGVS | Genome Assembly |
---|---|
NC_000007.14:g.155811834G>C , CM000669.2:g.155811834G>C | GRCh38 |
NC_000007.13:g.155604528G>C , CM000669.1:g.155604528G>C | GRCh37 |
NC_000007.12:g.155297289G>C | NCBI36 |
NG_007504.2:g.5440C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297261.7:c.289C>G MANE Select | ENSP00000297261.2:p.Leu97Val | |
ENST00000297261.6:c.289C>G | ENSP00000297261.2:p.Leu97Val | |
NM_000193.2:c.289C>G | NP_000184.1:p.Leu97Val | |
NM_000193.3:c.289C>G | NP_000184.1:p.Leu97Val | |
NM_000193.4:c.289C>G MANE Select | NP_000184.1:p.Leu97Val |