Linked Data
dbSNP Id:
rs1305972981
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90501213G>A , CM000677.2:g.90501213G>A | GRCh38 |
| NC_000015.9:g.91044445G>A , CM000677.1:g.91044445G>A | GRCh37 |
| NC_000015.8:g.88845449G>A | NCBI36 |
| NG_052946.1:g.117973G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268182.10:c.*1105G>A MANE Select | ENSP00000268182.5:n.*1105G>A | |
| ENST00000268182.9:c.*1105G>A | ENSP00000268182.5:n.*1105G>A | |
| ENST00000558957.1:n.2137G>A | ||
| ENST00000561086.1:n.1846G>A | ||
| NM_003870.3:c.*1105G>A | NP_003861.1:n.*1105G>A | |
| XR_001751409.2:n.6208G>A | ||
| NM_003870.4:c.*1105G>A MANE Select | NP_003861.1:n.*1105G>A |