Linked Data
gnomAD v4:
17-73196390-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73196390C>A , CM000679.2:g.73196390C>A | GRCh38 |
| NC_000017.10:g.71192529C>A , CM000679.1:g.71192529C>A | GRCh37 |
| NC_000017.9:g.68704124C>A | NCBI36 |
| NG_008971.1:g.8357C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299886.9:c.316-117C>A MANE Select | ENSP00000299886.4:n.316-117C>A | |
| ENST00000299886.8:c.316-117C>A | ENSP00000299886.4:n.316-117C>A | |
| ENST00000438720.7:c.314-117C>A | ||
| ENST00000582587.2:c.293-97C>A | ||
| ENST00000618996.4:c.316-117C>A | ENSP00000479450.1:n.316-117C>A | |
| NM_018714.2:c.316-117C>A | NP_061184.1:n.316-117C>A | |
| NM_018714.3:c.316-117C>A MANE Select | NP_061184.1:n.316-117C>A |