HGVS | Genome Assembly |
---|---|
NC_000018.10:g.77268553C>A , CM000680.2:g.77268553C>A | GRCh38 |
NC_000018.9:g.74980509C>A , CM000680.1:g.74980509C>A | GRCh37 |
NC_000018.8:g.73109497C>A | NCBI36 |
NG_009223.1:g.23502C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000299727.5:c.733-32C>A MANE Select | ENSP00000299727.3:n.733-32C>A | |
ENST00000299727.4:c.733-32C>A | ENSP00000299727.3:n.733-32C>A | |
NM_001480.3:c.733-32C>A | NP_001471.2:n.733-32C>A | |
NM_001480.4:c.733-32C>A MANE Select | NP_001471.2:n.733-32C>A |