Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133261596T= , CM000671.2:g.133261596T= | GRCh38 |
| NC_000009.11:g.136136999T= , CM000671.1:g.136136999T= | GRCh37 |
| NC_000009.10:g.135126820T= | NCBI36 |
| NG_006669.1:g.16054A= | |
| NG_006669.2:g.18619A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.129-222A= | ||
| ENST00000647353.1:n.54-10444A= | ||
| ENST00000651471.1:n.134-222A= | ||
| ENST00000679909.1:c.28+13566A= | ENSP00000506089.1:n.28+13566A= | |
| ENST00000453660.3:n.111-222A= | ||
| ENST00000538324.2:c.99-222A= | ENSP00000483018.1:n.99-222A= | |
| ENST00000611156.4:c.99-222A= | ENSP00000483265.1:n.99-222A= | |
| NM_020469.2:c.99-222A= | NP_065202.2:n.99-222A= | |
| NM_020469.3:c.99-222A= | NP_065202.2:n.99-222A= |