Linked Data
dbSNP Id:
rs1966336067
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90501184T>G , CM000677.2:g.90501184T>G | GRCh38 |
| NC_000015.9:g.91044416T>G , CM000677.1:g.91044416T>G | GRCh37 |
| NC_000015.8:g.88845420T>G | NCBI36 |
| NG_052946.1:g.117944T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268182.10:c.*1076T>G MANE Select | ENSP00000268182.5:n.*1076T>G | |
| ENST00000268182.9:c.*1076T>G | ENSP00000268182.5:n.*1076T>G | |
| ENST00000558957.1:n.2108T>G | ||
| ENST00000561086.1:n.1817T>G | ||
| NM_003870.3:c.*1076T>G | NP_003861.1:n.*1076T>G | |
| XR_001751409.2:n.6179T>G | ||
| NM_003870.4:c.*1076T>G MANE Select | NP_003861.1:n.*1076T>G |