Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133260255T>A , CM000671.2:g.133260255T>A | GRCh38 |
| NG_006669.1:g.17395A>T | |
| NG_006669.2:g.19960A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.186-389A>T | ||
| ENST00000647353.1:n.54-9103A>T | ||
| ENST00000651471.1:n.191-389A>T | ||
| ENST00000679909.1:c.28+14907A>T | ENSP00000506089.1:n.28+14907A>T | |
| ENST00000453660.3:n.168-389A>T | ||
| ENST00000538324.2:c.156-389A>T | ENSP00000483018.1:n.156-389A>T | |
| ENST00000611156.4:c.156-389A>T | ENSP00000483265.1:n.156-389A>T | |
| NM_020469.2:c.156-389A>T | NP_065202.2:n.156-389A>T | |
| NM_020469.3:c.156-389A>T | NP_065202.2:n.156-389A>T |