Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80101560G>A , CM000679.2:g.80101560G>A | GRCh38 |
| NC_000017.10:g.78075359G>A , CM000679.1:g.78075359G>A | GRCh37 |
| NC_000017.9:g.75689954G>A | NCBI36 |
| NG_009822.1:g.5005G>A , LRG_673:g.5005G>A | |
| NG_029761.1:g.69929G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.-98G>A | ENSP00000460543.2:n.-98G>A | |
| ENST00000570803.5:c.-98G>A | ENSP00000460543.1:n.-98G>A | |
| NM_000152.3:c.-363G>A , LRG_673t1:c.-363G>A | NP_000143.2:n.-363G>A | |
| NM_001079803.1:c.-178G>A | NP_001073271.1:n.-178G>A | |
| NM_001079804.1:c.-98G>A | NP_001073272.1:n.-98G>A | |
| XM_005257194.3:c.-213G>A | XP_005257251.1:n.-213G>A | |
| NM_000152.4:c.-363G>A | NP_000143.2:n.-363G>A | |
| NM_001079803.2:c.-178G>A | NP_001073271.1:n.-178G>A | |
| NM_001079804.2:c.-98G>A | NP_001073272.1:n.-98G>A | |
| NR_134848.1:n.35G>A | ||
| XM_005257194.4:c.-213G>A | XP_005257251.1:n.-213G>A |