Linked Data
ClinVar Variation Id:
52995
dbSNP Id:
rs199472792
ExAC:
11:2790135 A / G
gnomAD v2:
11-2790135-A-G
gnomAD v3:
11-2768905-A-G
gnomAD v4:
11-2768905-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2768905A>G , CM000673.2:g.2768905A>G | GRCh38 |
| NC_000011.9:g.2790135A>G , CM000673.1:g.2790135A>G | GRCh37 |
| NC_000011.8:g.2746711A>G | NCBI36 |
| NG_008935.1:g.328915A>G , LRG_287:g.328915A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1219A>G | ENSP00000434560.2:p.Lys407Glu | |
| ENST00000646564.2:c.1036A>G | ENSP00000495806.2:p.Lys346Glu | |
| ENST00000155840.12:c.1576A>G MANE Select | ENSP00000155840.2:p.Lys526Glu | |
| ENST00000335475.6:c.1195A>G | ENSP00000334497.5:p.Lys399Glu | |
| ENST00000646564.1:c.682A>G | ENSP00000495806.1:p.Lys228Glu | |
| ENST00000155840.9:c.1576A>G | ENSP00000155840.2:p.Lys526Glu | |
| ENST00000335475.5:c.1195A>G | ENSP00000334497.5:p.Lys399Glu | |
| NM_000218.2:c.1576A>G , LRG_287t1:c.1576A>G | NP_000209.2:p.Lys526Glu | |
| NM_181798.1:c.1195A>G , LRG_287t2:c.1195A>G | NP_861463.1:p.Lys399Glu | |
| NM_000218.3:c.1576A>G MANE Select | NP_000209.2:p.Lys526Glu |