Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133263862A>G , CM000671.2:g.133263862A>G | GRCh38 |
| NG_006669.2:g.16353T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.59-1694T>C | ||
| ENST00000647353.1:n.53+11300T>C | ||
| ENST00000651471.1:n.64-1694T>C | ||
| ENST00000679909.1:c.28+11300T>C | ENSP00000506089.1:n.28+11300T>C | |
| ENST00000453660.3:n.41-1694T>C | ||
| ENST00000538324.2:c.29-1694T>C | ENSP00000483018.1:n.29-1694T>C | |
| ENST00000611156.4:c.29-1694T>C | ENSP00000483265.1:n.29-1694T>C | |
| NM_020469.2:c.29-1694T>C | NP_065202.2:n.29-1694T>C | |
| NM_020469.3:c.29-1694T>C | NP_065202.2:n.29-1694T>C |