HGVS | Genome Assembly |
---|---|
NC_000008.11:g.30125002T>C , CM000670.2:g.30125002T>C | GRCh38 |
NC_000008.10:g.29982518T>C , CM000670.1:g.29982518T>C | GRCh37 |
NC_000008.9:g.30102060T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000442880.6:c.280-7373T>C | ENSP00000412803.2:n.280-7373T>C | |
ENST00000520682.5:c.280-6974T>C | ENSP00000429656.1:n.280-6974T>C | |
ENST00000520739.5:c.279+20516T>C | ENSP00000429398.1:n.279+20516T>C | |
ENST00000523116.5:c.280-12270T>C | ENSP00000428281.1:n.280-12270T>C | |
NM_001128208.1:c.280-12270T>C | NP_001121680.1:n.280-12270T>C | |
NM_001128208.2:c.280-12270T>C | NP_001121680.1:n.280-12270T>C |