HGVS | Genome Assembly |
---|---|
NC_000019.10:g.9126821G= , CM000681.2:g.9126821G= | GRCh38 |
NC_000019.9:g.9237497G= , CM000681.1:g.9237497G= | GRCh37 |
NC_000019.8:g.9098497G= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305444.2:c.130C= MANE Select | ENSP00000302867.2:p.Leu44= | |
NM_001001958.1:c.130C= MANE Select | NP_001001958.1:p.Leu44= |