Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.39329080A>G , CM000675.2:g.39329080A>G | GRCh38 |
| NC_000013.10:g.39903217A>G , CM000675.1:g.39903217A>G | GRCh37 |
| NC_000013.9:g.38801217A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648377.1:c.*82+14774T>C | ENSP00000496801.1:n.*82+14774T>C | |
| XR_001749845.1:n.1449+7191T>C |