Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.187424214G>A , CM000666.2:g.187424214G>A | GRCh38 |
| NC_000004.11:g.188345368G>A , CM000666.1:g.188345368G>A | GRCh37 |
| NC_000004.10:g.188582362G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_038931.1:n.322+81078C>T | ||
| XR_939603.1:n.268+1217G>A | ||
| XR_001741954.1:n.258+10503G>A | ||
| XR_001741955.1:n.1517+1217G>A | ||
| XR_001741956.1:n.258+10503G>A | ||
| XR_939603.2:n.269+1217G>A |