Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23930816C>T , CM000675.2:g.23930816C>T | GRCh38 |
| NC_000013.10:g.24504955C>T , CM000675.1:g.24504955C>T | GRCh37 |
| NC_000013.9:g.23402955C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_073430.1:n.3861+10474G>A |