Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2551654T>C , CM000671.2:g.2551654T>C | GRCh38 |
| NC_000009.11:g.2551654T>C , CM000671.1:g.2551654T>C | GRCh37 |
| NC_000009.10:g.2541654T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_015375.2:n.275-12102A>G |