Linked Data
ClinVar Variation Id:
476040
dbSNP Id:
rs116956945
ExAC:
22:37458586 C / T
gnomAD v2:
22-37458586-C-T
gnomAD v3:
22-37062546-C-T
gnomAD v4:
22-37062546-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37062546C>T , CM000684.2:g.37062546C>T | GRCh38 |
| NC_000022.10:g.37458586C>T , CM000684.1:g.37458586C>T | GRCh37 |
| NC_000022.9:g.35788532C>T | NCBI36 |
| NG_052003.1:g.15811C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402077.8:c.825C>T | ENSP00000384391.4:p.Pro275= | |
| ENST00000403888.8:c.897C>T MANE Select | ENSP00000385096.4:p.Pro299= | |
| ENST00000610767.5:c.634C>T | ENSP00000480699.2:p.Arg212Trp | |
| ENST00000402077.7:c.846C>T | ENSP00000384391.3:p.Pro282= | |
| ENST00000403888.7:c.918C>T | ENSP00000385096.3:p.Pro306= | |
| ENST00000456470.1:c.610C>T | ||
| ENST00000610767.4:c.655C>T | ENSP00000480699.1:p.Arg219Trp | |
| NM_001282684.1:c.918C>T | NP_001269613.1:p.Pro306= | |
| NM_001282685.1:c.*68C>T | NP_001269614.1:n.*68C>T | |
| NM_001282686.1:c.655C>T | NP_001269615.1:p.Arg219Trp | |
| NM_024681.3:c.846C>T | NP_078957.2:p.Pro282= | |
| XM_005261741.2:c.*68C>T | XP_005261798.2:n.*68C>T | |
| XM_005261744.2:c.755C>T | XP_005261801.1:p.Pro252Leu | |
| XM_011530374.1:c.*68C>T | XP_011528676.1:n.*68C>T | |
| XM_011530377.1:c.*68C>T | XP_011528679.1:n.*68C>T | |
| XR_937917.1:n.1042C>T | ||
| XM_005261741.3:c.*68C>T | XP_005261798.2:n.*68C>T | |
| XM_011530374.2:c.*68C>T | XP_011528676.1:n.*68C>T | |
| XM_011530377.2:c.*68C>T | XP_011528679.1:n.*68C>T | |
| XR_001755296.1:n.1296C>T | ||
| XR_937917.2:n.1042C>T | ||
| NM_001282684.2:c.897C>T MANE Select | NP_001269613.2:p.Pro299= | |
| NM_001282685.2:c.*68C>T | NP_001269614.2:n.*68C>T | |
| NM_001282686.2:c.634C>T | NP_001269615.2:p.Arg212Trp | |
| NM_024681.4:c.825C>T | NP_078957.3:p.Pro275= |