Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17247645A>T , CM000669.2:g.17247645A>T | GRCh38 |
| NC_000007.13:g.17287269A>T , CM000669.1:g.17287269A>T | GRCh37 |
| NC_000007.12:g.17253794A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000642825.1:c.-284A>T | ENSP00000495987.1:n.-284A>T |
| XR_927073.2:n.861+11607T>A |