Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97852423C>G , CM000671.2:g.97852423C>G | GRCh38 |
| NC_000009.11:g.100614705C>G , CM000671.1:g.100614705C>G | GRCh37 |
| NC_000009.10:g.99654526C>G | NCBI36 |
| NG_011979.1:g.4169C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_930158.1:n.218+453G>C | ||
| XR_930159.1:n.218+453G>C | ||
| XR_930160.1:n.218+453G>C | ||
| XR_930161.1:n.218+453G>C | ||
| NR_147055.1:n.165+493G>C |