Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133256145A= , CM000671.2:g.133256145A= | GRCh38 |
| NC_000009.11:g.136131532A= , CM000671.1:g.136131532A= | GRCh37 |
| NC_000009.10:g.135121353A= | NCBI36 |
| NG_006669.1:g.21523T= | |
| NG_006669.2:g.24071T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.615T= | ||
| ENST00000647353.1:n.54-4993T= | ||
| ENST00000651471.1:n.541T= | ||
| ENST00000679909.1:c.28+19017T= | ENSP00000506089.1:n.28+19017T= | |
| ENST00000453660.3:n.597T= | ||
| ENST00000538324.2:c.583T= | ENSP00000483018.1:p.Cys195= | |
| ENST00000611156.4:c.583T= | ENSP00000483265.1:p.Cys195= | |
| NM_020469.2:c.586T= | NP_065202.2:p.Cys196= | |
| NM_020469.3:c.586T= | NP_065202.2:p.Cys196= |