Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.10763725T>A , CM000673.2:g.10763725T>A | GRCh38 |
| NC_000011.9:g.10785272T>A , CM000673.1:g.10785272T>A | GRCh37 |
| NC_000011.8:g.10741848T>A | NCBI36 |
| NG_051671.1:g.17739T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361367.7:c.1040T>A MANE Select | ENSP00000355013.2:p.Leu347Ter | |
| ENST00000361367.6:c.1040T>A | ENSP00000355013.2:p.Leu347Ter | |
| ENST00000524523.1:c.893T>A | ENSP00000431458.1:p.Leu298Ter | |
| NM_014633.4:c.1040T>A | NP_055448.1:p.Leu347Ter | |
| NM_001346279.1:c.1040T>A | NP_001333208.1:p.Leu347Ter | |
| NM_014633.5:c.1040T>A MANE Select | NP_055448.1:p.Leu347Ter | |
| NM_001346279.2:c.1040T>A | NP_001333208.1:p.Leu347Ter |