Linked Data
ClinVar Variation Id:
1415598
dbSNP Id:
rs1056273933
gnomAD v2:
11-61213496-A-G
gnomAD v3:
11-61446024-A-G
gnomAD v4:
11-61446024-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61446024A>G , CM000673.2:g.61446024A>G | GRCh38 |
| NC_000011.9:g.61213496A>G , CM000673.1:g.61213496A>G | GRCh37 |
| NC_000011.8:g.60970072A>G | NCBI36 |
| NG_023393.1:g.20900A>G , LRG_519:g.20900A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301761.7:c.454A>G MANE Select | ENSP00000301761.3:p.Arg152Gly | |
| ENST00000301761.6:c.454A>G | ENSP00000301761.2:p.Arg152Gly | |
| ENST00000536670.5:n.396+7911A>G | ||
| ENST00000537782.5:c.*100A>G | ENSP00000469951.1:n.*100A>G | |
| ENST00000538594.5:c.370+7911A>G | ENSP00000440939.1:n.370+7911A>G | |
| ENST00000541135.5:c.377+7904A>G | ENSP00000443130.1:n.377+7904A>G | |
| ENST00000542074.1:c.*33A>G | ENSP00000469670.1:n.*33A>G | |
| ENST00000542794.5:c.*456A>G | ENSP00000439983.1:n.*456A>G | |
| ENST00000543044.2:c.418A>G | ENSP00000440219.1:p.Arg140Gly | |
| ENST00000543265.1:c.*77A>G | ENSP00000443660.1:n.*77A>G | |
| ENST00000544025.5:n.465+7911A>G | ||
| ENST00000544801.5:c.370+7911A>G | ENSP00000442581.1:n.370+7911A>G | |
| ENST00000544880.1:n.374+7911A>G | ||
| NM_017841.2:c.454A>G , LRG_519t1:c.454A>G | NP_060311.1:p.Arg152Gly | |
| NM_017841.4:c.454A>G MANE Select | NP_060311.1:p.Arg152Gly |