Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133274306G>C , CM000671.2:g.133274306G>C | GRCh38 |
| NG_006669.1:g.3328C>G | |
| NG_006669.2:g.5909C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.58+856C>G | ||
| ENST00000647353.1:n.53+856C>G | ||
| ENST00000651471.1:n.63+1656C>G | ||
| ENST00000679909.1:c.28+856C>G | ENSP00000506089.1:n.28+856C>G | |
| ENST00000453660.3:n.40+856C>G | ||
| ENST00000538324.2:c.28+856C>G | ENSP00000483018.1:n.28+856C>G | |
| ENST00000611156.4:c.28+856C>G | ENSP00000483265.1:n.28+856C>G | |
| NM_020469.2:c.28+856C>G | NP_065202.2:n.28+856C>G | |
| NM_020469.3:c.28+856C>G | NP_065202.2:n.28+856C>G |