Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8080882A>C , CM000679.2:g.8080882A>C | GRCh38 |
| NC_000017.10:g.7984200A>C , CM000679.1:g.7984200A>C | GRCh37 |
| NC_000017.9:g.7924925A>C | NCBI36 |
| NG_007099.1:g.11822T>G | |
| NG_007099.2:g.11835T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001139.3:c.527+2T>G MANE Select | NP_001130.1:n.527+2T>G |
| ENST00000647874.1:c.527+2T>G MANE Select | ENSP00000497784.1:n.527+2T>G |
| NM_001139.2:c.527+2T>G | NP_001130.1:n.527+2T>G |
| ENST00000319144.4:c.527+2T>G | ENSP00000315167.4:n.527+2T>G |
| XR_001752778.1:n.1111A>C |