Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764522T>C , CM000674.2:g.57764522T>C | GRCh38 |
| NC_000012.11:g.58158305T>C , CM000674.1:g.58158305T>C | GRCh37 |
| NC_000012.10:g.56444572T>C | NCBI36 |
| NG_007076.1:g.7672A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1073A>G | ENSP00000518840.1:p.Tyr358Cys | |
| ENST00000713545.1:c.1050A>G | ENSP00000518841.1:p.Val350= | |
| ENST00000228606.9:c.992A>G MANE Select | ENSP00000228606.4:p.Tyr331Cys | |
| ENST00000228606.8:c.992A>G | ENSP00000228606.4:p.Tyr331Cys | |
| ENST00000546567.5:c.287A>G | ENSP00000449472.1:p.Tyr96Cys | |
| ENST00000547344.5:n.1131A>G | ||
| NM_000785.3:c.992A>G | NP_000776.1:p.Tyr331Cys | |
| NM_000785.4:c.992A>G MANE Select | NP_000776.1:p.Tyr331Cys |