Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.129559830C>T , CM000670.2:g.129559830C>T | GRCh38 |
| NC_000008.10:g.130572076C>T , CM000670.1:g.130572076C>T | GRCh37 |
| NC_000008.9:g.130641258C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_130917.1:n.313-79140G>A | ||
| NR_130918.1:n.137+15052G>A | ||
| NR_130919.1:n.137+15052G>A | ||
| NR_130920.1:n.137+15052G>A |