Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2594755A>G , CM000682.2:g.2594755A>G | GRCh38 |
| NC_000020.10:g.2575401A>G , CM000682.1:g.2575401A>G | GRCh37 |
| NC_000020.9:g.2523401A>G | NCBI36 |
| NG_042834.1:g.63149A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358864.2:c.934-70A>G MANE Select | ENSP00000351732.1:n.934-70A>G | |
| ENST00000644205.1:n.1093-70A>G | ||
| ENST00000358864.1:c.934-70A>G | ENSP00000351732.1:n.934-70A>G | |
| NM_080751.2:c.934-70A>G | NP_542789.2:n.934-70A>G | |
| XM_005260660.2:c.1009-70A>G | XP_005260717.1:n.1009-70A>G | |
| XM_005260660.4:c.1009-70A>G | XP_005260717.1:n.1009-70A>G | |
| XR_001754152.1:n.1143-70A>G | ||
| NM_080751.3:c.934-70A>G MANE Select | NP_542789.2:n.934-70A>G |