Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33439025G= , CM000682.2:g.33439025G= | GRCh38 |
| NC_000020.10:g.32026831G= , CM000682.1:g.32026831G= | GRCh37 |
| NC_000020.9:g.31490492G= | NCBI36 |
| NG_011622.1:g.9868C= , LRG_332:g.9868C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.3:c.312C= MANE Select | ENSP00000217381.2:p.Gly104= | |
| ENST00000217381.2:c.312C= | ENSP00000217381.2:p.Gly104= | |
| NM_003098.2:c.312C= , LRG_332t1:c.312C= | NP_003089.1:p.Gly104= | |
| XM_005260517.1:c.312C= | XP_005260574.1:p.Gly104= | |
| XM_011529007.1:c.312C= | XP_011527309.1:p.Gly104= | |
| XM_011529008.1:c.312C= | XP_011527310.1:p.Gly104= | |
| XR_936612.1:n.545C= | ||
| XM_024451971.1:c.-16C= | XP_024307739.1:n.-16C= | |
| NM_003098.3:c.312C= MANE Select | NP_003089.1:p.Gly104= |