HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32813360C>A , CM000668.2:g.32813360C>A | GRCh38 |
NC_000006.11:g.32781137C>A , CM000668.1:g.32781137C>A | GRCh37 |
NC_000006.10:g.32889115C>A | NCBI36 |
NG_009793.3:g.30411G>T | |
NG_012008.1:g.8689G>T | |
NG_009793.4:g.30411G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000438763.7:c.786+80G>T MANE Select | ENSP00000390020.2:n.786+80G>T | |
ENST00000648009.1:c.786+80G>T | ENSP00000496848.1:n.786+80G>T | |
ENST00000438763.6:c.786+80G>T | ENSP00000390020.2:n.786+80G>T | |
ENST00000475235.1:n.1309+80G>T | ||
ENST00000488325.5:c.*557+80G>T | ENSP00000436618.1:n.*557+80G>T | |
NM_002120.3:c.786+80G>T | NP_002111.1:n.786+80G>T | |
NM_002120.4:c.786+80G>T MANE Select | NP_002111.1:n.786+80G>T |