Linked Data
dbSNP Id:
rs1966336177
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90501188A>T , CM000677.2:g.90501188A>T | GRCh38 |
| NC_000015.9:g.91044420A>T , CM000677.1:g.91044420A>T | GRCh37 |
| NC_000015.8:g.88845424A>T | NCBI36 |
| NG_052946.1:g.117948A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268182.10:c.*1080A>T MANE Select | ENSP00000268182.5:n.*1080A>T | |
| ENST00000268182.9:c.*1080A>T | ENSP00000268182.5:n.*1080A>T | |
| ENST00000558957.1:n.2112A>T | ||
| ENST00000561086.1:n.1821A>T | ||
| NM_003870.3:c.*1080A>T | NP_003861.1:n.*1080A>T | |
| XR_001751409.2:n.6183A>T | ||
| NM_003870.4:c.*1080A>T MANE Select | NP_003861.1:n.*1080A>T |