Linked Data
ClinVar Variation Id:
140932
dbSNP Id:
rs587781379
ExAC:
22:29107934 C / T
gnomAD v2:
22-29107934-C-T
gnomAD v3:
22-28711946-C-T
gnomAD v4:
22-28711946-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28711946C>T , CM000684.2:g.28711946C>T | GRCh38 |
| NC_000022.10:g.29107934C>T , CM000684.1:g.29107934C>T | GRCh37 |
| NC_000022.9:g.27437934C>T | NCBI36 |
| NG_008150.1:g.34889G>A | |
| NG_008150.2:g.34921G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439346.6:c.664G>A | ENSP00000396903.2:n.664G>A | |
| ENST00000711048.1:c.755G>A | ENSP00000518557.1:p.Ser252Asn | |
| ENST00000402731.6:c.554G>A | ENSP00000384835.2:p.Ser185Asn | |
| ENST00000404276.6:c.755G>A MANE Select | ENSP00000385747.1:p.Ser252Asn | |
| ENST00000425190.7:c.92G>A | ENSP00000390244.2:p.Ser31Asn | |
| ENST00000464581.6:c.95G>A | ENSP00000483777.2:p.Ser32Asn | |
| ENST00000648295.1:n.307G>A | ||
| ENST00000649563.1:c.92G>A | ENSP00000496928.1:p.Ser31Asn | |
| ENST00000650281.1:c.755G>A | ENSP00000497000.1:p.Ser252Asn | |
| ENST00000328354.10:c.755G>A | ENSP00000329178.6:p.Ser252Asn | |
| ENST00000348295.7:c.755G>A | ENSP00000329012.5:p.Ser252Asn | |
| ENST00000382580.6:c.884G>A | ENSP00000372023.2:p.Ser295Asn | |
| ENST00000402731.5:c.755G>A | ENSP00000384835.1:p.Ser252Asn | |
| ENST00000403642.5:c.482G>A | ENSP00000384919.1:p.Ser161Asn | |
| ENST00000404276.5:c.755G>A | ENSP00000385747.1:p.Ser252Asn | |
| ENST00000405598.5:c.755G>A | ENSP00000386087.1:p.Ser252Asn | |
| ENST00000416671.5:c.*245G>A | ENSP00000402225.1:n.*245G>A | |
| ENST00000417588.5:c.664G>A | ENSP00000412901.1:n.664G>A | |
| ENST00000425190.6:c.92G>A | ENSP00000390244.1:p.Ser31Asn | |
| ENST00000433028.6:c.*480G>A | ENSP00000403659.1:n.*480G>A | |
| ENST00000433728.5:c.755G>A | ENSP00000404400.1:p.Ser252Asn | |
| ENST00000439200.5:c.848G>A | ENSP00000408065.1:p.Ser283Asn | |
| ENST00000439346.5:c.226G>A | ENSP00000396903.1:n.226G>A | |
| ENST00000447421.5:c.554G>A | ENSP00000397478.2:p.Ser185Asn | |
| ENST00000448511.5:c.645G>A | ENSP00000404567.1:n.645G>A | |
| ENST00000456369.5:c.10G>A | ||
| ENST00000464581.5:c.95G>A | ENSP00000483777.1:p.Ser32Asn | |
| ENST00000491919.5:n.312G>A | ||
| NM_001005735.1:c.884G>A | NP_001005735.1:p.Ser295Asn | |
| NM_001257387.1:c.92G>A | NP_001244316.1:p.Ser31Asn | |
| NM_007194.3:c.755G>A | NP_009125.1:p.Ser252Asn | |
| NM_145862.2:c.755G>A | NP_665861.1:p.Ser252Asn | |
| XM_006724114.2:c.275G>A | XP_006724177.1:p.Ser92Asn | |
| XM_006724116.2:c.212G>A | XP_006724179.2:p.Ser71Asn | |
| XM_011529839.1:c.914G>A | XP_011528141.1:p.Ser305Asn | |
| XM_011529840.1:c.914G>A | XP_011528142.1:p.Ser305Asn | |
| XM_011529841.1:c.683G>A | XP_011528143.1:p.Ser228Asn | |
| XM_011529842.1:c.584G>A | XP_011528144.1:p.Ser195Asn | |
| XM_011529843.1:c.554G>A | XP_011528145.1:p.Ser185Asn | |
| XM_011529844.1:c.914G>A | XP_011528146.1:p.Ser305Asn | |
| XM_011529845.1:c.92G>A | XP_011528147.1:p.Ser31Asn | |
| XR_937805.1:n.976G>A | ||
| XR_937806.1:n.971G>A | ||
| XR_937807.1:n.971G>A | ||
| NM_001349956.1:c.554G>A | NP_001336885.1:p.Ser185Asn | |
| NM_007194.4:c.755G>A MANE Select | NP_009125.1:p.Ser252Asn | |
| XM_006724114.3:c.308G>A | XP_006724177.2:p.Ser103Asn | |
| XM_011529839.2:c.914G>A | XP_011528141.1:p.Ser305Asn | |
| XM_011529840.3:c.914G>A | XP_011528142.1:p.Ser305Asn | |
| XM_011529842.2:c.584G>A | XP_011528144.1:p.Ser195Asn | |
| XM_011529844.2:c.914G>A | XP_011528146.1:p.Ser305Asn | |
| XM_011529845.2:c.92G>A | XP_011528147.1:p.Ser31Asn | |
| XM_017028560.1:c.878G>A | XP_016884049.1:p.Ser293Asn | |
| XM_017028561.2:c.92G>A | XP_016884050.1:p.Ser31Asn | |
| XM_024452148.1:c.785G>A | XP_024307916.1:p.Ser262Asn | |
| XM_024452149.1:c.785G>A | XP_024307917.1:p.Ser262Asn | |
| XR_937805.2:n.987G>A | ||
| XR_937806.2:n.987G>A | ||
| XR_937807.2:n.987G>A | ||
| NM_001005735.2:c.884G>A | NP_001005735.1:p.Ser295Asn | |
| NM_001257387.2:c.92G>A | NP_001244316.1:p.Ser31Asn | |
| NM_001349956.2:c.554G>A | NP_001336885.1:p.Ser185Asn |