Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519870C>G , CM000674.2:g.52519870C>G | GRCh38 |
| NC_000012.11:g.52913654C>G , CM000674.1:g.52913654C>G | GRCh37 |
| NC_000012.10:g.51199921C>G | NCBI36 |
| NG_008297.1:g.5590G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.427G>C MANE Select | ENSP00000252242.4:p.Val143Leu | |
| ENST00000252242.8:c.427G>C | ENSP00000252242.4:p.Val143Leu | |
| ENST00000549420.1:c.97G>C | ENSP00000447209.1:p.Val33Leu | |
| ENST00000551275.1:c.322G>C | ENSP00000448041.1:p.Val108Leu | |
| ENST00000552629.5:n.525G>C | ||
| NM_000424.3:c.427G>C | NP_000415.2:p.Val143Leu | |
| NM_000424.4:c.427G>C MANE Select | NP_000415.2:p.Val143Leu |