HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32814187C>T , CM000668.2:g.32814187C>T | GRCh38 |
NC_000006.11:g.32781964C>T , CM000668.1:g.32781964C>T | GRCh37 |
NC_000006.10:g.32889942C>T | NCBI36 |
NG_009793.3:g.29584G>A | |
NG_012008.1:g.7862G>A | |
NG_009793.4:g.29584G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000438763.7:c.643+133G>A MANE Select | ENSP00000390020.2:n.643+133G>A | |
ENST00000648009.1:c.643+133G>A | ENSP00000496848.1:n.643+133G>A | |
ENST00000438763.6:c.643+133G>A | ENSP00000390020.2:n.643+133G>A | |
ENST00000452392.2:c.2464+133G>A | ENSP00000391806.2:n.2464+133G>A | |
ENST00000475235.1:n.813G>A | ||
ENST00000488325.5:c.*414+133G>A | ENSP00000436618.1:n.*414+133G>A | |
NM_002120.3:c.643+133G>A | NP_002111.1:n.643+133G>A | |
NM_002120.4:c.643+133G>A MANE Select | NP_002111.1:n.643+133G>A |