Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.5692893G>C , CM000664.2:g.5692893G>C | GRCh38 |
| NC_000002.11:g.5833025G>C , CM000664.1:g.5833025G>C | GRCh37 |
| NC_000002.10:g.5750476G>C | NCBI36 |
| NG_050751.1:g.5227G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322002.5:c.172G>C MANE Select | ENSP00000322568.3:p.Val58Leu | |
| ENST00000322002.4:c.172G>C | ENSP00000322568.3:p.Val58Leu | |
| NM_003108.3:c.172G>C | NP_003099.1:p.Val58Leu | |
| NM_003108.4:c.172G>C MANE Select | NP_003099.1:p.Val58Leu |