Linked Data
dbSNP Id:
rs780604700
gnomAD v2:
15-91044452-G-A
gnomAD v3:
15-90501220-G-A
gnomAD v4:
15-90501220-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90501220G>A , CM000677.2:g.90501220G>A | GRCh38 |
| NC_000015.9:g.91044452G>A , CM000677.1:g.91044452G>A | GRCh37 |
| NC_000015.8:g.88845456G>A | NCBI36 |
| NG_052946.1:g.117980G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268182.10:c.*1112G>A MANE Select | ENSP00000268182.5:n.*1112G>A | |
| ENST00000268182.9:c.*1112G>A | ENSP00000268182.5:n.*1112G>A | |
| ENST00000558957.1:n.2144G>A | ||
| ENST00000561086.1:n.1853G>A | ||
| NM_003870.3:c.*1112G>A | NP_003861.1:n.*1112G>A | |
| XR_001751409.2:n.6215G>A | ||
| NM_003870.4:c.*1112G>A MANE Select | NP_003861.1:n.*1112G>A |