Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.99609365G>A , CM000676.2:g.99609365G>A | GRCh38 |
| NC_000014.8:g.100075702G>A , CM000676.1:g.100075702G>A | GRCh37 |
| NC_000014.7:g.99145455G>A | NCBI36 |
| NG_051108.1:g.9890G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_006720277.2:c.-199+4750G>A | XP_006720340.1:n.-199+4750G>A | |
| XM_011537236.1:c.-287+4750G>A | XP_011535538.1:n.-287+4750G>A | |
| NM_001329411.1:c.-287+4750G>A | NP_001316340.1:n.-287+4750G>A | |
| XM_006720277.3:c.-199+4750G>A | XP_006720340.1:n.-199+4750G>A | |
| XM_011537236.2:c.-287+4750G>A | XP_011535538.1:n.-287+4750G>A | |
| NM_001329411.2:c.-287+4750G>A | NP_001316340.1:n.-287+4750G>A |