Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133273232C= , CM000671.2:g.133273232C= | GRCh38 |
| NG_006669.1:g.4404G= | |
| NG_006669.2:g.6983G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.58+1930G= | ||
| ENST00000647353.1:n.53+1930G= | ||
| ENST00000651471.1:n.63+2730G= | ||
| ENST00000679909.1:c.28+1930G= | ENSP00000506089.1:n.28+1930G= | |
| ENST00000453660.3:n.40+1930G= | ||
| ENST00000538324.2:c.28+1930G= | ENSP00000483018.1:n.28+1930G= | |
| ENST00000611156.4:c.28+1930G= | ENSP00000483265.1:n.28+1930G= | |
| NM_020469.2:c.28+1930G= | NP_065202.2:n.28+1930G= | |
| NM_020469.3:c.28+1930G= | NP_065202.2:n.28+1930G= |