Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564671G>C , CM000684.2:g.36564671G>C | GRCh38 |
| NC_000022.10:g.36960718G>C , CM000684.1:g.36960718G>C | GRCh37 |
| NC_000022.9:g.35290664G>C | NCBI36 |
| NG_031861.1:g.142973C>G | |
| NG_031861.2:g.143188C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.652C>G MANE Select | ENSP00000300105.6:p.Leu218Val | |
| ENST00000300105.6:c.652C>G | ENSP00000300105.6:p.Leu218Val | |
| NM_006078.3:c.652C>G | NP_006069.1:p.Leu218Val | |
| NM_006078.4:c.652C>G | NP_006069.1:p.Leu218Val | |
| XM_017028531.2:c.394C>G | XP_016884020.1:p.Leu132Val | |
| NM_001379051.1:c.583C>G | NP_001365980.1:p.Leu195Val | |
| NM_006078.5:c.652C>G MANE Select | NP_006069.1:p.Leu218Val | |
| NR_166440.1:n.2018C>G |