Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.134757056C= , CM000673.2:g.134757056C= | GRCh38 |
| NC_000011.9:g.134626950C= , CM000673.1:g.134626950C= | GRCh37 |
| NC_000011.8:g.134132160C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_147836.1:n.599-4018C= |