HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32814262G>A , CM000668.2:g.32814262G>A | GRCh38 |
NC_000006.11:g.32782039G>A , CM000668.1:g.32782039G>A | GRCh37 |
NC_000006.10:g.32890017G>A | NCBI36 |
NG_009793.3:g.29509C>T | |
NG_012008.1:g.7787C>T | |
NG_009793.4:g.29509C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000438763.7:c.643+58C>T MANE Select | ENSP00000390020.2:n.643+58C>T | |
ENST00000648009.1:c.643+58C>T | ENSP00000496848.1:n.643+58C>T | |
ENST00000438763.6:c.643+58C>T | ENSP00000390020.2:n.643+58C>T | |
ENST00000452392.2:c.2464+58C>T | ENSP00000391806.2:n.2464+58C>T | |
ENST00000475235.1:n.738C>T | ||
ENST00000488325.5:c.*414+58C>T | ENSP00000436618.1:n.*414+58C>T | |
NM_002120.3:c.643+58C>T | NP_002111.1:n.643+58C>T | |
NM_002120.4:c.643+58C>T MANE Select | NP_002111.1:n.643+58C>T |