Linked Data
ClinVar Variation Id:
457898
dbSNP Id:
rs776109136
ExAC:
22:30070875 C / T
gnomAD v2:
22-30070875-C-T
gnomAD v3:
22-29674886-C-T
gnomAD v4:
22-29674886-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29674886C>T , CM000684.2:g.29674886C>T | GRCh38 |
| NC_000022.10:g.30070875C>T , CM000684.1:g.30070875C>T | GRCh37 |
| NC_000022.9:g.28400875C>T | NCBI36 |
| NG_009057.1:g.76331C>T , LRG_511:g.76331C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361166.10:c.1256C>T | ENSP00000354529.6:p.Ala419Val | |
| ENST00000673312.2:c.*885C>T | ENSP00000500186.2:n.*885C>T | |
| ENST00000338641.10:c.1391C>T MANE Select | ENSP00000344666.5:p.Ala464Val | |
| ENST00000361166.9:c.809C>T | ENSP00000354529.5:p.Ala270Val | |
| ENST00000672461.1:c.1391C>T | ENSP00000500919.1:p.Ala464Val | |
| ENST00000672805.1:c.*1273C>T | ENSP00000500295.1:n.*1273C>T | |
| ENST00000672896.1:c.1391C>T | ENSP00000500117.1:p.Ala464Val | |
| ENST00000673312.1:c.1410C>T | ENSP00000500186.1:n.1410C>T | |
| ENST00000334961.11:c.1142C>T | ENSP00000335652.7:p.Ala381Val | |
| ENST00000338641.8:c.1391C>T | ENSP00000344666.4:p.Ala464Val | |
| ENST00000353887.8:c.1142C>T | ENSP00000340626.4:p.Ala381Val | |
| ENST00000361166.8:c.1391C>T | ENSP00000354529.4:p.Ala464Val | |
| ENST00000361452.8:c.1268C>T | ENSP00000354897.4:p.Ala423Val | |
| ENST00000361676.8:c.1265C>T | ENSP00000355183.4:p.Ala422Val | |
| ENST00000397789.3:c.1391C>T | ENSP00000380891.3:p.Ala464Val | |
| ENST00000403435.5:c.1304C>T | ENSP00000384029.1:p.Ala435Val | |
| ENST00000403999.7:c.1391C>T | ENSP00000384797.3:p.Ala464Val | |
| ENST00000413209.6:c.448-19866C>T | ENSP00000409921.2:n.448-19866C>T | |
| ENST00000432151.5:c.573C>T | ENSP00000395885.1:p.Gly191= | |
| NM_000268.3:c.1391C>T , LRG_511t1:c.1391C>T | NP_000259.1:p.Ala464Val | |
| NM_016418.5:c.1391C>T , LRG_511t2:c.1391C>T | NP_057502.2:p.Ala464Val | |
| NM_181825.2:c.1391C>T | NP_861546.1:p.Ala464Val | |
| NM_181828.2:c.1265C>T | NP_861966.1:p.Ala422Val | |
| NM_181829.2:c.1268C>T | NP_861967.1:p.Ala423Val | |
| NM_181830.2:c.1142C>T | NP_861968.1:p.Ala381Val | |
| NM_181831.2:c.1142C>T | NP_861969.1:p.Ala381Val | |
| NM_181832.2:c.1391C>T | NP_861970.1:p.Ala464Val | |
| NM_181833.2:c.448-19866C>T | NP_861971.1:n.448-19866C>T | |
| NR_156186.1:n.1950C>T | ||
| XM_017028809.2:c.1277C>T | XP_016884298.1:p.Ala426Val | |
| XM_017028810.1:c.1277C>T | XP_016884299.1:p.Ala426Val | |
| NM_000268.4:c.1391C>T MANE Select | NP_000259.1:p.Ala464Val | |
| NM_181825.3:c.1391C>T | NP_861546.1:p.Ala464Val | |
| NM_181828.3:c.1265C>T | NP_861966.1:p.Ala422Val | |
| NM_181829.3:c.1268C>T | NP_861967.1:p.Ala423Val | |
| NM_181830.3:c.1142C>T | NP_861968.1:p.Ala381Val | |
| NM_181831.3:c.1142C>T | NP_861969.1:p.Ala381Val | |
| NM_181832.3:c.1391C>T | NP_861970.1:p.Ala464Val | |
| NR_156186.2:n.1873C>T | ||
| NM_181833.3:c.448-19866C>T | NP_861971.1:n.448-19866C>T |