Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667262G>C , CM000683.2:g.31667262G>C | GRCh38 |
| NC_000021.8:g.33039575G>C , CM000683.1:g.33039575G>C | GRCh37 |
| NC_000021.7:g.31961446G>C | NCBI36 |
| NG_008689.1:g.12641G>C , LRG_652:g.12641G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.244G>C MANE Select | ENSP00000270142.7:p.Val82Leu | |
| ENST00000270142.10:c.244G>C | ENSP00000270142.6:p.Val82Leu | |
| ENST00000389995.4:c.187G>C | ENSP00000374645.4:p.Val63Leu | |
| ENST00000470944.1:n.1172G>C | ||
| ENST00000476106.5:n.507G>C | ||
| NM_000454.4:c.244G>C , LRG_652t1:c.244G>C | NP_000445.1:p.Val82Leu | |
| NM_000454.5:c.244G>C MANE Select | NP_000445.1:p.Val82Leu |