Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740721T>G , CM000685.2:g.153740721T>G | GRCh38 |
| NC_000023.10:g.153006175T>G , CM000685.1:g.153006175T>G | GRCh37 |
| NC_000023.9:g.152659369T>G | NCBI36 |
| NG_009022.2:g.20854T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1780+2T>G MANE Select | ENSP00000218104.3:n.1780+2T>G | |
| ENST00000218104.5:c.1780+2T>G | ENSP00000218104.3:n.1780+2T>G | |
| NM_000033.3:c.1780+2T>G | NP_000024.2:n.1780+2T>G | |
| XR_938507.1:n.2252+2T>G | ||
| XR_938507.2:n.2252+2T>G | ||
| NM_000033.4:c.1780+2T>G MANE Select | NP_000024.2:n.1780+2T>G |