Linked Data
ClinVar Variation Id:
13318
dbSNP Id:
rs121918474
ExAC:
3:93624643 T / C
gnomAD v2:
3-93624643-T-C
gnomAD v3:
3-93905799-T-C
gnomAD v4:
3-93905799-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93905799T>C , CM000665.2:g.93905799T>C | GRCh38 |
| NC_000003.11:g.93624643T>C , CM000665.1:g.93624643T>C | GRCh37 |
| NC_000003.10:g.95107333T>C | NCBI36 |
| NG_009813.1:g.73292A>G , LRG_572:g.73292A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348974.5:c.586A>G | ENSP00000330021.7:p.Lys196Glu | |
| ENST00000394236.9:c.586A>G MANE Select | ENSP00000377783.3:p.Lys196Glu | |
| ENST00000407433.6:c.556+30A>G | ENSP00000385794.2:n.556+30A>G | |
| ENST00000647936.1:c.586A>G | ENSP00000496822.1:p.Lys196Glu | |
| ENST00000648381.1:n.754A>G | ||
| ENST00000648853.1:c.544A>G | ENSP00000497262.1:p.Lys182Glu | |
| ENST00000649103.1:c.685A>G | ENSP00000497962.1:n.685A>G | |
| ENST00000650591.1:c.682A>G | ENSP00000497376.1:p.Lys228Glu | |
| ENST00000348974.4:c.682A>G | ENSP00000330021.6:p.Lys228Glu | |
| ENST00000394236.7:c.586A>G | ENSP00000377783.3:p.Lys196Glu | |
| ENST00000407433.5:c.193A>G | ENSP00000385794.1:p.Lys65Glu | |
| NM_000313.3:c.586A>G , LRG_572t1:c.586A>G | NP_000304.2:p.Lys196Glu | |
| NM_001314077.1:c.682A>G , LRG_572t2:c.682A>G | NP_001301006.1:p.Lys228Glu | |
| NM_000313.4:c.586A>G MANE Select | NP_000304.2:p.Lys196Glu | |
| NM_001314077.2:c.682A>G | NP_001301006.1:p.Lys228Glu |