Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133256246A= , CM000671.2:g.133256246A= | GRCh38 |
| NC_000009.11:g.136131633A= , CM000671.1:g.136131633A= | GRCh37 |
| NC_000009.10:g.135121454A= | NCBI36 |
| NG_006669.1:g.21422T= | |
| NG_006669.2:g.23970T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.514T= | ||
| ENST00000647353.1:n.54-5094T= | ||
| ENST00000651471.1:n.440T= | ||
| ENST00000679909.1:c.28+18916T= | ENSP00000506089.1:n.28+18916T= | |
| ENST00000453660.3:n.496T= | ||
| ENST00000538324.2:c.482T= | ENSP00000483018.1:p.Val161= | |
| ENST00000611156.4:c.482T= | ENSP00000483265.1:p.Val161= | |
| NM_020469.2:c.485T= | NP_065202.2:p.Val162= | |
| NM_020469.3:c.485T= | NP_065202.2:p.Val162= |