HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1212980C>A , CM000667.2:g.1212980C>A | GRCh38 |
NC_000005.9:g.1213095C>A , CM000667.1:g.1213095C>A | GRCh37 |
NC_000005.8:g.1266095C>A | NCBI36 |
NG_008282.1:g.16386C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000304460.11:c.664-483C>A MANE Select | ENSP00000305302.10:n.664-483C>A | |
ENST00000304460.10:c.664-483C>A | ENSP00000305302.10:n.664-483C>A | |
ENST00000515652.5:c.572-483C>A | ENSP00000425701.1:n.572-483C>A | |
NM_001003841.2:c.664-483C>A | NP_001003841.1:n.664-483C>A | |
NM_001003841.3:c.664-483C>A MANE Select | NP_001003841.1:n.664-483C>A |