Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133260073A>G , CM000671.2:g.133260073A>G | GRCh38 |
| NC_000009.11:g.136135477A>G , CM000671.1:g.136135477A>G | GRCh37 |
| NC_000009.10:g.135125298A>G | NCBI36 |
| NG_006669.1:g.17577T>C | |
| NG_006669.2:g.20142T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.186-207T>C | ||
| ENST00000647353.1:n.54-8921T>C | ||
| ENST00000651471.1:n.191-207T>C | ||
| ENST00000679909.1:c.28+15089T>C | ENSP00000506089.1:n.28+15089T>C | |
| ENST00000453660.3:n.168-207T>C | ||
| ENST00000538324.2:c.156-207T>C | ENSP00000483018.1:n.156-207T>C | |
| ENST00000611156.4:c.156-207T>C | ENSP00000483265.1:n.156-207T>C | |
| NM_020469.2:c.156-207T>C | NP_065202.2:n.156-207T>C | |
| NM_020469.3:c.156-207T>C | NP_065202.2:n.156-207T>C |