Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.38811124T>A , CM000666.2:g.38811124T>A | GRCh38 |
| NC_000004.11:g.38812745T>A , CM000666.1:g.38812745T>A | GRCh37 |
| NC_000004.10:g.38489140T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506146.5:c.-352-5931A>T | ENSP00000423725.1:n.-352-5931A>T |