Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7668312C>T , CM000679.2:g.7668312C>T | GRCh38 |
| NC_000017.10:g.7571630C>T , CM000679.1:g.7571630C>T | GRCh37 |
| NC_000017.9:g.7512355C>T | NCBI36 |
| NG_017013.2:g.24239G>A , LRG_321:g.24239G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359597.8:c.994-2068G>A | ENSP00000352610.4:n.994-2068G>A | |
| ENST00000413465.6:c.782+5869G>A | ENSP00000410739.2:n.782+5869G>A | |
| ENST00000635293.1:c.984-887G>A | ENSP00000488924.1:n.984-887G>A |