Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564730A>C , CM000684.2:g.36564730A>C | GRCh38 |
| NC_000022.10:g.36960777A>C , CM000684.1:g.36960777A>C | GRCh37 |
| NC_000022.9:g.35290723A>C | NCBI36 |
| NG_031861.1:g.142914T>G | |
| NG_031861.2:g.143129T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.593T>G MANE Select | ENSP00000300105.6:p.Val198Gly | |
| ENST00000300105.6:c.593T>G | ENSP00000300105.6:p.Val198Gly | |
| NM_006078.3:c.593T>G | NP_006069.1:p.Val198Gly | |
| NM_006078.4:c.593T>G | NP_006069.1:p.Val198Gly | |
| XM_017028531.2:c.335T>G | XP_016884020.1:p.Val112Gly | |
| NM_001379051.1:c.524T>G | NP_001365980.1:p.Val175Gly | |
| NM_006078.5:c.593T>G MANE Select | NP_006069.1:p.Val198Gly | |
| NR_166440.1:n.1959T>G |