Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.38811255T>C , CM000666.2:g.38811255T>C | GRCh38 |
| NC_000004.11:g.38812876T>C , CM000666.1:g.38812876T>C | GRCh37 |
| NC_000004.10:g.38489271T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000506146.5:c.-352-6062A>G | ENSP00000423725.1:n.-352-6062A>G |