Canonical Allele Identifier:
CA836922213
Gene:
Linked Data
dbSNP Id:
rs1191472176
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24283914G>C , CM000669.2:g.24283914G>C | GRCh38 |
| NC_000007.13:g.24323533G>C , CM000669.1:g.24323533G>C | GRCh37 |
| NC_000007.12:g.24290058G>C | NCBI36 |
| NG_016148.1:g.4727G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017012910.1:c.42-28215C>G | XP_016868399.1:n.42-28215C>G | |
| XM_017012911.1:c.42-28215C>G | XP_016868400.1:n.42-28215C>G | |
| XR_001745121.1:n.473+35443C>G | ||
| XR_001745122.1:n.345-86885C>G | ||
| XR_001745123.1:n.473+35443C>G | ||
| XR_001745124.1:n.473+35443C>G | ||
| XR_001745125.1:n.473+35443C>G | ||
| XR_001745126.1:n.473+35443C>G | ||
| XR_001745127.1:n.345-28215C>G | ||
| XR_001745129.1:n.473+35443C>G | ||
| XR_001745130.1:n.473+35443C>G | ||
| XR_001745131.1:n.473+35443C>G | ||
| XR_001745132.1:n.473+35443C>G |