Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127428925C>T , CM000670.2:g.127428925C>T | GRCh38 |
| NC_000008.10:g.128441170C>T , CM000670.1:g.128441170C>T | GRCh37 |
| NC_000008.9:g.128510352C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_117100.1:n.1042-7962G>A |