Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112832724A>G , CM000664.2:g.112832724A>G | GRCh38 |
| NC_000002.11:g.113590301A>G , CM000664.1:g.113590301A>G | GRCh37 |
| NC_000002.10:g.113306772A>G | NCBI36 |
| NG_008851.1:g.9056T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263341.7:c.404T>C MANE Select | ENSP00000263341.2:p.Val135Ala | |
| ENST00000263341.6:c.404T>C | ENSP00000263341.2:p.Val135Ala | |
| ENST00000418817.5:c.404T>C | ENSP00000407219.1:p.Val135Ala | |
| ENST00000487639.1:n.305T>C | ||
| ENST00000491056.5:n.1211T>C | ||
| NM_000576.2:c.404T>C | NP_000567.1:p.Val135Ala | |
| XM_006712496.1:c.170T>C | XP_006712559.1:p.Val57Ala | |
| XM_017003988.2:c.311T>C | XP_016859477.1:p.Val104Ala | |
| NM_000576.3:c.404T>C MANE Select | NP_000567.1:p.Val135Ala |