Linked Data
gnomAD v4:
10-17849873-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17849873C>A , CM000672.2:g.17849873C>A | GRCh38 |
| NG_047011.1:g.45531C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000569591.3:c.1249+109C>A MANE Select | ENSP00000455897.1:n.1249+109C>A | |
| ENST00000569591.2:c.1249+109C>A | ENSP00000455897.1:n.1249+109C>A | |
| NM_002438.3:c.1249+109C>A | NP_002429.1:n.1249+109C>A | |
| NM_002438.4:c.1249+109C>A MANE Select | NP_002429.1:n.1249+109C>A |