HGVS | Genome Assembly |
---|---|
NC_000019.10:g.9126629C>G , CM000681.2:g.9126629C>G | GRCh38 |
NC_000019.9:g.9237305C>G , CM000681.1:g.9237305C>G | GRCh37 |
NC_000019.8:g.9098305C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305444.2:c.322G>C MANE Select | ENSP00000302867.2:p.Val108Leu | |
NM_001001958.1:c.322G>C MANE Select | NP_001001958.1:p.Val108Leu |