Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112832727A>C , CM000664.2:g.112832727A>C | GRCh38 |
| NC_000002.11:g.113590304A>C , CM000664.1:g.113590304A>C | GRCh37 |
| NC_000002.10:g.113306775A>C | NCBI36 |
| NG_008851.1:g.9053T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263341.7:c.401T>G MANE Select | ENSP00000263341.2:p.Leu134Trp | |
| ENST00000263341.6:c.401T>G | ENSP00000263341.2:p.Leu134Trp | |
| ENST00000418817.5:c.401T>G | ENSP00000407219.1:p.Leu134Trp | |
| ENST00000487639.1:n.302T>G | ||
| ENST00000491056.5:n.1208T>G | ||
| NM_000576.2:c.401T>G | NP_000567.1:p.Leu134Trp | |
| XM_006712496.1:c.167T>G | XP_006712559.1:p.Leu56Trp | |
| XM_017003988.2:c.308T>G | XP_016859477.1:p.Leu103Trp | |
| NM_000576.3:c.401T>G MANE Select | NP_000567.1:p.Leu134Trp |