Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2621030C>A , CM000671.2:g.2621030C>A | GRCh38 |
| NC_000009.11:g.2621030C>A , CM000671.1:g.2621030C>A | GRCh37 |
| NC_000009.10:g.2611030C>A | NCBI36 |
| NG_012741.1:g.4238C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_015375.2:n.274+1070G>T |