Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8081189T>C , CM000679.2:g.8081189T>C | GRCh38 |
| NC_000017.10:g.7984507T>C , CM000679.1:g.7984507T>C | GRCh37 |
| NC_000017.9:g.7925232T>C | NCBI36 |
| NG_007099.1:g.11515A>G | |
| NG_007099.2:g.11528A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001139.3:c.353-2A>G MANE Select | NP_001130.1:n.353-2A>G |
| ENST00000647874.1:c.353-2A>G MANE Select | ENSP00000497784.1:n.353-2A>G |
| NM_001139.2:c.353-2A>G | NP_001130.1:n.353-2A>G |
| ENST00000319144.4:c.353-2A>G | ENSP00000315167.4:n.353-2A>G |
| XR_001752778.1:n.1418T>C |