Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33408808C= , CM000682.2:g.33408808C= | GRCh38 |
| NC_000020.10:g.31996614C= , CM000682.1:g.31996614C= | GRCh37 |
| NC_000020.9:g.31460275C= | NCBI36 |
| NG_011622.1:g.40085G= , LRG_332:g.40085G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.3:c.1318G= MANE Select | ENSP00000217381.2:p.Ala440= | |
| ENST00000217381.2:c.1318G= | ENSP00000217381.2:p.Ala440= | |
| NM_003098.2:c.1318G= , LRG_332t1:c.1318G= | NP_003089.1:p.Ala440= | |
| XM_005260517.1:c.1318G= | XP_005260574.1:p.Ala440= | |
| XM_011529007.1:c.1350G= | XP_011527309.1:p.Val450= | |
| XM_011529008.1:c.1350G= | XP_011527310.1:p.Val450= | |
| XR_936612.1:n.1354G= | ||
| XM_024451971.1:c.991G= | XP_024307739.1:p.Ala331= | |
| NM_003098.3:c.1318G= MANE Select | NP_003089.1:p.Ala440= |