Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37249540G>A , CM000667.2:g.37249540G>A | GRCh38 |
| NC_000005.9:g.37249642G>A , CM000667.1:g.37249642G>A | GRCh37 |
| NC_000005.8:g.37285399G>A | NCBI36 |
| NG_032772.1:g.4889C>T | |
| NG_032772.2:g.4889C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_925921.1:n.171+319G>A | ||
| NR_134263.1:n.176+319G>A |