Linked Data
dbSNP Id:
rs749346338
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.108875062T>C , CM000663.2:g.108875062T>C | GRCh38 |
| NC_000001.10:g.109417684T>C , CM000663.1:g.109417684T>C | GRCh37 |
| NC_000001.9:g.109219207T>C | NCBI36 |
| NG_028108.1:g.3082T>C | |
| NG_028108.2:g.4713T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357393.6:c.1-25486A>G | ENSP00000349968.6:n.1-25486A>G | |
| ENST00000357393.5:c.115-25486A>G | ENSP00000349968.5:n.115-25486A>G | |
| XR_001738178.1:n.103+78A>G |