HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1213555C>G , CM000667.2:g.1213555C>G | GRCh38 |
NC_000005.9:g.1213670C>G , CM000667.1:g.1213670C>G | GRCh37 |
NC_000005.8:g.1266670C>G | NCBI36 |
NG_008282.1:g.16961C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000304460.11:c.756C>G MANE Select | ENSP00000305302.10:p.Val252= | |
ENST00000304460.10:c.756C>G | ENSP00000305302.10:p.Val252= | |
ENST00000515652.5:c.664C>G | ENSP00000425701.1:p.Leu222Val | |
NM_001003841.2:c.756C>G | NP_001003841.1:p.Val252= | |
NM_001003841.3:c.756C>G MANE Select | NP_001003841.1:p.Val252= |