HGVS | Genome Assembly |
---|---|
NC_000019.10:g.9126947T>C , CM000681.2:g.9126947T>C | GRCh38 |
NC_000019.9:g.9237623T>C , CM000681.1:g.9237623T>C | GRCh37 |
NC_000019.8:g.9098623T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305444.2:c.4A>G MANE Select | ENSP00000302867.2:p.Lys2Glu | |
NM_001001958.1:c.4A>G MANE Select | NP_001001958.1:p.Lys2Glu |