Linked Data
gnomAD v4:
18-31326578-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31326578C>A , CM000680.2:g.31326578C>A | GRCh38 |
| NC_000018.9:g.28906541C>A , CM000680.1:g.28906541C>A | GRCh37 |
| NC_000018.8:g.27160539C>A | NCBI36 |
| NG_011803.2:g.13490C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257192.5:c.49-3C>A MANE Select | ENSP00000257192.4:n.49-3C>A | |
| ENST00000257192.4:c.49-3C>A | ENSP00000257192.4:n.49-3C>A | |
| NM_001942.3:c.49-3C>A | NP_001933.2:n.49-3C>A | |
| NM_001942.4:c.49-3C>A MANE Select | NP_001933.2:n.49-3C>A |