Linked Data
ClinVar Variation Id:
2058562
dbSNP Id:
rs150414253
ExAC:
1:201286736 C / G
gnomAD v2:
1-201286736-C-G
gnomAD v3:
1-201317608-C-G
gnomAD v4:
1-201317608-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201317608C>G , CM000663.2:g.201317608C>G | GRCh38 |
| NC_000001.10:g.201286736C>G , CM000663.1:g.201286736C>G | GRCh37 |
| NC_000001.9:g.199553359C>G | NCBI36 |
| NG_023337.1:g.39157C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367324.8:c.883C>G MANE Select | ENSP00000356293.4:p.Leu295Val | |
| ENST00000263946.7:c.883C>G | ENSP00000263946.3:p.Leu295Val | |
| ENST00000352845.3:c.883C>G | ENSP00000295597.3:p.Leu295Val | |
| ENST00000367324.7:c.883C>G | ENSP00000356293.3:p.Leu295Val | |
| ENST00000475988.1:n.225C>G | ||
| ENST00000622031.4:c.880C>G | ENSP00000482213.1:p.Leu294Val | |
| NM_000299.3:c.883C>G | NP_000290.2:p.Leu295Val | |
| NM_001005337.2:c.883C>G | NP_001005337.1:p.Leu295Val | |
| NM_001005337.3:c.883C>G MANE Select | NP_001005337.1:p.Leu295Val | |
| NM_000299.4:c.883C>G | NP_000290.2:p.Leu295Val |