Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37249514C>T , CM000667.2:g.37249514C>T | GRCh38 |
| NC_000005.9:g.37249616C>T , CM000667.1:g.37249616C>T | GRCh37 |
| NC_000005.8:g.37285373C>T | NCBI36 |
| NG_032772.1:g.4915G>A | |
| NG_032772.2:g.4915G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_925921.1:n.171+293C>T | ||
| NR_134263.1:n.176+293C>T |