Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37249740A>G , CM000667.2:g.37249740A>G | GRCh38 |
| NC_000005.9:g.37249842A>G , CM000667.1:g.37249842A>G | GRCh37 |
| NC_000005.8:g.37285599A>G | NCBI36 |
| NG_032772.1:g.4689T>C | |
| NG_032772.2:g.4689T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_925921.1:n.171+519A>G | ||
| NR_134263.1:n.176+519A>G |