Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133268030G= , CM000671.2:g.133268030G= | GRCh38 |
| NG_006669.2:g.12185C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020469.2:c.29-5862C= | NP_065202.2:n.29-5862C= |
| NM_020469.3:c.29-5862C= | NP_065202.2:n.29-5862C= |
| ENST00000453660.3:n.41-5862C= | |
| ENST00000453660.4:n.59-5862C= | |
| ENST00000538324.2:c.29-5862C= | ENSP00000483018.1:n.29-5862C= |
| ENST00000611156.4:c.29-5862C= | ENSP00000483265.1:n.29-5862C= |
| ENST00000647353.1:n.53+7132C= | |
| ENST00000651471.1:n.64-5862C= | |
| ENST00000679909.1:c.28+7132C= | ENSP00000506089.1:n.28+7132C= |