Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.103262081G>A , CM000671.2:g.103262081G>A | GRCh38 |
| NC_000009.11:g.106024363G>A , CM000671.1:g.106024363G>A | GRCh37 |
| NC_000009.10:g.105064184G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_121578.1:n.771+2443C>T |