Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.71112691A>C , CM000679.2:g.71112691A>C | GRCh38 |
| NC_000017.10:g.69108832A>C , CM000679.1:g.69108832A>C | GRCh37 |
| NC_000017.9:g.66620427A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_104152.1:n.218-13073T>G |