Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.103262026C>T , CM000671.2:g.103262026C>T | GRCh38 |
| NC_000009.11:g.106024308C>T , CM000671.1:g.106024308C>T | GRCh37 |
| NC_000009.10:g.105064129C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_121578.1:n.771+2498G>A |