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