Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6072396A>C , CM000674.2:g.6072396A>C | GRCh38 |
| NC_000012.11:g.6181562A>C , CM000674.1:g.6181562A>C | GRCh37 |
| NC_000012.10:g.6051823A>C | NCBI36 |
| NG_009072.1:g.57275T>G | |
| NG_009072.2:g.57275T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.1044T>G MANE Select | ENSP00000261405.5:p.Cys348Trp | |
| ENST00000261405.9:c.1044T>G | ENSP00000261405.5:p.Cys348Trp | |
| ENST00000538635.5:n.420+38119T>G | ||
| NM_000552.3:c.1044T>G | NP_000543.2:p.Cys348Trp | |
| NM_000552.4:c.1044T>G | NP_000543.2:p.Cys348Trp | |
| NM_000552.5:c.1044T>G MANE Select | NP_000543.3:p.Cys348Trp |