Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112832725C>G , CM000664.2:g.112832725C>G | GRCh38 |
| NC_000002.11:g.113590302C>G , CM000664.1:g.113590302C>G | GRCh37 |
| NC_000002.10:g.113306773C>G | NCBI36 |
| NG_008851.1:g.9055G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263341.7:c.403G>C MANE Select | ENSP00000263341.2:p.Val135Leu | |
| ENST00000263341.6:c.403G>C | ENSP00000263341.2:p.Val135Leu | |
| ENST00000418817.5:c.403G>C | ENSP00000407219.1:p.Val135Leu | |
| ENST00000487639.1:n.304G>C | ||
| ENST00000491056.5:n.1210G>C | ||
| NM_000576.2:c.403G>C | NP_000567.1:p.Val135Leu | |
| XM_006712496.1:c.169G>C | XP_006712559.1:p.Val57Leu | |
| XM_017003988.2:c.310G>C | XP_016859477.1:p.Val104Leu | |
| NM_000576.3:c.403G>C MANE Select | NP_000567.1:p.Val135Leu |