Linked Data
ClinVar Variation Id:
241218
dbSNP Id:
rs150187184
ExAC:
11:61213532 A / G
gnomAD v2:
11-61213532-A-G
gnomAD v3:
11-61446060-A-G
gnomAD v4:
11-61446060-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61446060A>G , CM000673.2:g.61446060A>G | GRCh38 |
| NC_000011.9:g.61213532A>G , CM000673.1:g.61213532A>G | GRCh37 |
| NC_000011.8:g.60970108A>G | NCBI36 |
| NG_023393.1:g.20936A>G , LRG_519:g.20936A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301761.7:c.490A>G MANE Select | ENSP00000301761.3:p.Lys164Glu | |
| ENST00000301761.6:c.490A>G | ENSP00000301761.2:p.Lys164Glu | |
| ENST00000536670.5:n.396+7947A>G | ||
| ENST00000538594.5:c.370+7947A>G | ENSP00000440939.1:n.370+7947A>G | |
| ENST00000541135.5:c.377+7940A>G | ENSP00000443130.1:n.377+7940A>G | |
| ENST00000542074.1:c.*69A>G | ENSP00000469670.1:n.*69A>G | |
| ENST00000542794.5:c.*492A>G | ENSP00000439983.1:n.*492A>G | |
| ENST00000543044.2:c.454A>G | ENSP00000440219.1:p.Lys152Glu | |
| ENST00000543265.1:c.*113A>G | ENSP00000443660.1:n.*113A>G | |
| ENST00000544025.5:n.465+7947A>G | ||
| ENST00000544801.5:c.370+7947A>G | ENSP00000442581.1:n.370+7947A>G | |
| ENST00000544880.1:n.374+7947A>G | ||
| NM_017841.2:c.490A>G , LRG_519t1:c.490A>G | NP_060311.1:p.Lys164Glu | |
| NM_017841.4:c.490A>G MANE Select | NP_060311.1:p.Lys164Glu |