Linked Data
ClinVar Variation Id:
410707
dbSNP Id:
rs780103418
ExAC:
22:24176358 G / A
gnomAD v2:
22-24176358-G-A
gnomAD v4:
22-23834171-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23834171G>A , CM000684.2:g.23834171G>A | GRCh38 |
| NC_000022.10:g.24176358G>A , CM000684.1:g.24176358G>A | GRCh37 |
| NC_000022.9:g.22506358G>A | NCBI36 |
| NG_009303.1:g.52209G>A , LRG_520:g.52209G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263121.12:c.1011G>A | ENSP00000263121.8:p.Pro337= | |
| ENST00000344921.11:c.1176G>A | ENSP00000340883.6:p.Pro392= | |
| ENST00000407422.8:c.1122G>A | ENSP00000383984.3:p.Pro374= | |
| ENST00000644036.2:c.1149G>A MANE Select | ENSP00000494049.2:p.Pro383= | |
| ENST00000644462.1:c.1867G>A | ENSP00000494283.1:n.1867G>A | |
| ENST00000645799.1:n.2471G>A | ||
| ENST00000646723.1:n.3495G>A | ||
| ENST00000647057.1:c.*643G>A | ENSP00000494757.1:n.*643G>A | |
| ENST00000263121.11:c.1149G>A | ENSP00000263121.7:p.Pro383= | |
| ENST00000344921.10:c.1176G>A | ENSP00000340883.6:p.Pro392= | |
| ENST00000407082.3:c.1011G>A | ENSP00000385226.3:p.Pro337= | |
| ENST00000407422.7:c.1122G>A | ENSP00000383984.3:p.Pro374= | |
| NM_001007468.1:c.1122G>A | NP_001007469.1:p.Pro374= | |
| NM_003073.3:c.1149G>A , LRG_520t1:c.1149G>A | NP_003064.2:p.Pro383= | |
| XM_011530345.1:c.1203G>A | XP_011528647.1:p.Pro401= | |
| XM_011530346.1:c.1176G>A | XP_011528648.1:p.Pro392= | |
| NM_001007468.2:c.1122G>A | NP_001007469.1:p.Pro374= | |
| NM_001317946.1:c.1176G>A | NP_001304875.1:p.Pro392= | |
| NM_001362877.1:c.1203G>A | NP_001349806.1:p.Pro401= | |
| NM_003073.4:c.1149G>A | NP_003064.2:p.Pro383= | |
| NM_001007468.3:c.1122G>A | NP_001007469.1:p.Pro374= | |
| NM_001317946.2:c.1176G>A | NP_001304875.1:p.Pro392= | |
| NM_001362877.2:c.1203G>A | NP_001349806.1:p.Pro401= | |
| NM_003073.5:c.1149G>A MANE Select | NP_003064.2:p.Pro383= |