Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27917061G>C , CM000675.2:g.27917061G>C | GRCh38 |
| NC_000013.10:g.28491198G>C , CM000675.1:g.28491198G>C | GRCh37 |
| NC_000013.9:g.27389198G>C | NCBI36 |
| NG_008183.1:g.2031G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_047484.1:n.241+4103C>G | |
| NR_047484.2:n.142+89C>G |