Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781999T>G , CM000672.2:g.94781999T>G | GRCh38 |
| NC_000010.10:g.96541756T>G , CM000672.1:g.96541756T>G | GRCh37 |
| NC_000010.9:g.96531746T>G | NCBI36 |
| NG_008384.2:g.24294T>G | |
| NG_008384.3:g.24319T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000769.4:c.819+2T>G MANE Select | NP_000760.1:n.819+2T>G |
| ENST00000371321.9:c.819+2T>G MANE Select | ENSP00000360372.3:n.819+2T>G |
| NM_000769.2:c.819+2T>G | NP_000760.1:n.819+2T>G |
| ENST00000371321.7:c.819+2T>G | ENSP00000360372.3:n.819+2T>G |
| ENST00000464755.1:c.1582+2T>G | ENSP00000483243.1:n.1582+2T>G |
| ENST00000645461.1:n.1872+2T>G |