Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2982875C>T , CM000671.2:g.2982875C>T | GRCh38 |
| NC_000009.11:g.2982875C>T , CM000671.1:g.2982875C>T | GRCh37 |
| NC_000009.10:g.2972875C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426329.6:n.427+9588G>A |