Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70206168G>T , CM000673.2:g.70206168G>T | GRCh38 |
| NC_000011.9:g.70052274G>T , CM000673.1:g.70052274G>T | GRCh37 |
| NC_000011.8:g.69729922G>T | NCBI36 |
| NG_027966.1:g.8006G>T , LRG_228:g.8006G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301838.5:c.322G>T MANE Select | ENSP00000301838.5:p.Val108Leu | |
| ENST00000301838.4:c.322G>T | ENSP00000301838.4:p.Val108Leu | |
| NM_003824.3:c.322G>T , LRG_228t1:c.322G>T | NP_003815.1:p.Val108Leu | |
| NM_003824.4:c.322G>T MANE Select | NP_003815.1:p.Val108Leu |