Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133256031G= , CM000671.2:g.133256031G= | GRCh38 |
| NC_000009.11:g.136131418G= , CM000671.1:g.136131418G= | GRCh37 |
| NC_000009.10:g.135121239G= | NCBI36 |
| NG_006669.1:g.21637C= | |
| NG_006669.2:g.24185C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020469.2:c.700C= | NP_065202.2:p.Pro234= |
| NM_020469.3:c.700C= | NP_065202.2:p.Pro234= |
| ENST00000453660.3:n.711C= | |
| ENST00000453660.4:n.729C= | |
| ENST00000538324.2:c.697C= | ENSP00000483018.1:p.Pro233= |
| ENST00000611156.4:c.697C= | ENSP00000483265.1:p.Pro233= |
| ENST00000647353.1:n.54-4879C= | |
| ENST00000679909.1:c.28+19131C= | ENSP00000506089.1:n.28+19131C= |