Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.129559866C= , CM000670.2:g.129559866C= | GRCh38 |
| NC_000008.10:g.130572112C= , CM000670.1:g.130572112C= | GRCh37 |
| NC_000008.9:g.130641294C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_130917.1:n.313-79176G= | ||
| NR_130918.1:n.137+15016G= | ||
| NR_130919.1:n.137+15016G= | ||
| NR_130920.1:n.137+15016G= |