Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.74192430T>C , CM000674.2:g.74192430T>C | GRCh38 |
| NC_000012.11:g.74586210T>C , CM000674.1:g.74586210T>C | GRCh37 |
| NC_000012.10:g.72872477T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_038300.1:n.553+1644A>G |