Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764516A>C , CM000674.2:g.57764516A>C | GRCh38 |
| NC_000012.11:g.58158299A>C , CM000674.1:g.58158299A>C | GRCh37 |
| NC_000012.10:g.56444566A>C | NCBI36 |
| NG_007076.1:g.7678T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1079T>G | ENSP00000518840.1:p.Leu360Arg | |
| ENST00000713545.1:c.*3T>G | ENSP00000518841.1:n.*3T>G | |
| ENST00000228606.9:c.998T>G MANE Select | ENSP00000228606.4:p.Leu333Arg | |
| ENST00000228606.8:c.998T>G | ENSP00000228606.4:p.Leu333Arg | |
| ENST00000546567.5:c.293T>G | ENSP00000449472.1:p.Leu98Arg | |
| ENST00000547344.5:n.1137T>G | ||
| NM_000785.3:c.998T>G | NP_000776.1:p.Leu333Arg | |
| NM_000785.4:c.998T>G MANE Select | NP_000776.1:p.Leu333Arg |