Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133258116G= , CM000671.2:g.133258116G= | GRCh38 |
| NG_006669.1:g.19548C= | |
| NG_006669.2:g.22099C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020469.2:c.220C= | NP_065202.2:p.Pro74= |
| NM_020469.3:c.220C= | NP_065202.2:p.Pro74= |
| ENST00000453660.3:n.232C= | |
| ENST00000453660.4:n.250C= | |
| ENST00000538324.2:c.220C= | ENSP00000483018.1:p.Pro74= |
| ENST00000611156.4:c.220C= | ENSP00000483265.1:p.Pro74= |
| ENST00000647353.1:n.54-6964C= | |
| ENST00000651471.1:n.255C= | |
| ENST00000679909.1:c.28+17046C= | ENSP00000506089.1:n.28+17046C= |