Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.128530116G>T , CM000670.2:g.128530116G>T | GRCh38 |
| NC_000008.10:g.129542362G>T , CM000670.1:g.129542362G>T | GRCh37 |
| NC_000008.9:g.129611544G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_121672.1:n.508+30954C>A |