Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58281342A>C , CM000679.2:g.58281342A>C | GRCh38 |
| NC_000017.10:g.56358703A>C , CM000679.1:g.56358703A>C | GRCh37 |
| NC_000017.9:g.53713702A>C | NCBI36 |
| NG_009629.1:g.4594T>G , LRG_84:g.4594T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011524821.1:c.71-273T>G | XP_011523123.1:n.71-273T>G | |
| XM_011524823.1:c.71-273T>G | XP_011523125.1:n.71-273T>G |