Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257431A= , CM000671.2:g.133257431A= | GRCh38 |
| NC_000009.11:g.136132818A= , CM000671.1:g.136132818A= | GRCh37 |
| NC_000009.10:g.135122639A= | NCBI36 |
| NG_006669.1:g.20237T= | |
| NG_006669.2:g.22785T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.381T= | ||
| ENST00000647353.1:n.54-6279T= | ||
| ENST00000651471.1:n.329+611T= | ||
| ENST00000679909.1:c.28+17731T= | ENSP00000506089.1:n.28+17731T= | |
| ENST00000453660.3:n.363T= | ||
| ENST00000538324.2:c.349T= | ENSP00000483018.1:p.Leu117= | |
| ENST00000611156.4:c.349T= | ENSP00000483265.1:p.Leu117= | |
| NM_020469.2:c.352T= | NP_065202.2:p.Leu118= | |
| NM_020469.3:c.352T= | NP_065202.2:p.Leu118= |