Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.38809930G>A , CM000666.2:g.38809930G>A | GRCh38 |
| NC_000004.11:g.38811551G>A , CM000666.1:g.38811551G>A | GRCh37 |
| NC_000004.10:g.38487946G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000506146.5:c.-352-4737C>T | ENSP00000423725.1:n.-352-4737C>T |