Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7668308C>A , CM000679.2:g.7668308C>A | GRCh38 |
| NC_000017.10:g.7571626C>A , CM000679.1:g.7571626C>A | GRCh37 |
| NC_000017.9:g.7512351C>A | NCBI36 |
| NG_017013.2:g.24243G>T , LRG_321:g.24243G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000359597.8:c.994-2064G>T | ENSP00000352610.4:n.994-2064G>T |
| ENST00000413465.6:c.782+5873G>T | ENSP00000410739.2:n.782+5873G>T |
| ENST00000635293.1:c.984-883G>T | ENSP00000488924.1:n.984-883G>T |