Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133261703A>T , CM000671.2:g.133261703A>T | GRCh38 |
| NG_006669.2:g.18512T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.129-329T>A | ||
| ENST00000647353.1:n.54-10551T>A | ||
| ENST00000651471.1:n.134-329T>A | ||
| ENST00000679909.1:c.28+13459T>A | ENSP00000506089.1:n.28+13459T>A | |
| ENST00000453660.3:n.111-329T>A | ||
| ENST00000538324.2:c.99-329T>A | ENSP00000483018.1:n.99-329T>A | |
| ENST00000611156.4:c.99-329T>A | ENSP00000483265.1:n.99-329T>A | |
| NM_020469.2:c.99-329T>A | NP_065202.2:n.99-329T>A | |
| NM_020469.3:c.99-329T>A | NP_065202.2:n.99-329T>A |