Linked Data
ClinVar Variation Id:
212506
dbSNP Id:
rs777796155
ExAC:
22:50665234 A / C
gnomAD v2:
22-50665234-A-C
gnomAD v3:
22-50226805-A-C
gnomAD v4:
22-50226805-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50226805A>C , CM000684.2:g.50226805A>C | GRCh38 |
| NC_000022.10:g.50665234A>C , CM000684.1:g.50665234A>C | GRCh37 |
| NC_000022.9:g.49007361A>C | NCBI36 |
| NG_032160.1:g.23167T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248846.10:c.1529T>G MANE Select | ENSP00000248846.5:p.Leu510Arg | |
| ENST00000248846.9:c.1529T>G | ENSP00000248846.5:p.Leu510Arg | |
| ENST00000434349.1:c.760T>G | ||
| ENST00000439308.6:c.1529T>G | ENSP00000397387.2:p.Leu510Arg | |
| ENST00000498611.5:n.2062T>G | ||
| NM_020461.3:c.1529T>G | NP_065194.2:p.Leu510Arg | |
| XR_938347.1:n.2094T>G | ||
| XR_938348.1:n.2094T>G | ||
| XR_001755343.2:n.2098T>G | ||
| XR_001755344.2:n.2098T>G | ||
| XR_002958720.1:n.2098T>G | ||
| XR_938347.2:n.2098T>G | ||
| NM_020461.4:c.1529T>G MANE Select | NP_065194.3:p.Leu510Arg |