HGVS | Genome Assembly |
---|---|
NC_000014.9:g.49622010C>G , CM000676.2:g.49622010C>G | GRCh38 |
NC_000014.8:g.50088728C>G , CM000676.1:g.50088728C>G | GRCh37 |
NC_000014.7:g.49158478C>G | NCBI36 |
NG_008920.1:g.6240C>G | |
NG_033054.1:g.3622G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305386.4:c.742C>G MANE Select | ENSP00000307423.2:p.Leu248Val | |
ENST00000305386.3:c.742C>G | ENSP00000307423.2:p.Leu248Val | |
NM_002408.3:c.742C>G | NP_002399.1:p.Leu248Val | |
NM_002408.4:c.742C>G MANE Select | NP_002399.1:p.Leu248Val |