Linked Data
ClinVar Variation Id:
420225
dbSNP Id:
rs767043399
gnomAD v2:
22-29085183-C-G
gnomAD v3:
22-28689195-C-G
gnomAD v4:
22-28689195-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28689195C>G , CM000684.2:g.28689195C>G | GRCh38 |
| NC_000022.10:g.29085183C>G , CM000684.1:g.29085183C>G | GRCh37 |
| NC_000022.9:g.27415183C>G | NCBI36 |
| NG_008150.1:g.57640G>C | |
| NG_008150.2:g.57672G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.*217G>C | ENSP00000518557.1:n.*217G>C | |
| ENST00000402731.6:c.1281G>C | ENSP00000384835.2:p.Lys427Asn | |
| ENST00000404276.6:c.1482G>C MANE Select | ENSP00000385747.1:p.Lys494Asn | |
| ENST00000425190.7:c.819G>C | ENSP00000390244.2:p.Lys273Asn | |
| ENST00000464581.6:c.822G>C | ENSP00000483777.2:p.Lys274Asn | |
| ENST00000648295.1:n.1034G>C | ||
| ENST00000649563.1:c.819G>C | ENSP00000496928.1:p.Lys273Asn | |
| ENST00000650281.1:c.1482G>C | ENSP00000497000.1:p.Lys494Asn | |
| ENST00000328354.10:c.1482G>C | ENSP00000329178.6:p.Lys494Asn | |
| ENST00000348295.7:c.1395G>C | ENSP00000329012.5:p.Lys465Asn | |
| ENST00000382580.6:c.1611G>C | ENSP00000372023.2:p.Lys537Asn | |
| ENST00000402731.5:c.1395G>C | ENSP00000384835.1:p.Lys465Asn | |
| ENST00000403642.5:c.1209G>C | ENSP00000384919.1:p.Lys403Asn | |
| ENST00000404276.5:c.1482G>C | ENSP00000385747.1:p.Lys494Asn | |
| ENST00000405598.5:c.1482G>C | ENSP00000386087.1:p.Lys494Asn | |
| ENST00000416671.5:c.*972G>C | ENSP00000402225.1:n.*972G>C | |
| ENST00000417588.5:c.1391G>C | ENSP00000412901.1:n.1391G>C | |
| ENST00000433728.5:c.1420G>C | ENSP00000404400.1:n.1420G>C | |
| ENST00000434810.5:c.680G>C | ||
| ENST00000448511.5:c.1372G>C | ENSP00000404567.1:n.1372G>C | |
| ENST00000456369.5:c.284G>C | ||
| ENST00000472807.1:n.216G>C | ||
| NM_001005735.1:c.1611G>C | NP_001005735.1:p.Lys537Asn | |
| NM_001257387.1:c.819G>C | NP_001244316.1:p.Lys273Asn | |
| NM_007194.3:c.1482G>C | NP_009125.1:p.Lys494Asn | |
| NM_145862.2:c.1395G>C | NP_665861.1:p.Lys465Asn | |
| XM_006724114.2:c.1002G>C | XP_006724177.1:p.Lys334Asn | |
| XM_006724116.2:c.939G>C | XP_006724179.2:p.Lys313Asn | |
| XM_011529839.1:c.1641G>C | XP_011528141.1:p.Lys547Asn | |
| XM_011529840.1:c.1554G>C | XP_011528142.1:p.Lys518Asn | |
| XM_011529841.1:c.1410G>C | XP_011528143.1:p.Lys470Asn | |
| XM_011529842.1:c.1311G>C | XP_011528144.1:p.Lys437Asn | |
| XM_011529843.1:c.1281G>C | XP_011528145.1:p.Lys427Asn | |
| XM_011529845.1:c.819G>C | XP_011528147.1:p.Lys273Asn | |
| XR_937805.1:n.1641G>C | ||
| NM_001349956.1:c.1281G>C | NP_001336885.1:p.Lys427Asn | |
| NM_007194.4:c.1482G>C MANE Select | NP_009125.1:p.Lys494Asn | |
| XM_006724114.3:c.1035G>C | XP_006724177.2:p.Lys345Asn | |
| XM_011529839.2:c.1641G>C | XP_011528141.1:p.Lys547Asn | |
| XM_011529840.3:c.1554G>C | XP_011528142.1:p.Lys518Asn | |
| XM_011529842.2:c.1311G>C | XP_011528144.1:p.Lys437Asn | |
| XM_011529845.2:c.819G>C | XP_011528147.1:p.Lys273Asn | |
| XM_017028560.1:c.1605G>C | XP_016884049.1:p.Lys535Asn | |
| XM_017028561.2:c.819G>C | XP_016884050.1:p.Lys273Asn | |
| XM_024452148.1:c.1512G>C | XP_024307916.1:p.Lys504Asn | |
| XM_024452149.1:c.1425G>C | XP_024307917.1:p.Lys475Asn | |
| XR_937805.2:n.1652G>C | ||
| NM_001005735.2:c.1611G>C | NP_001005735.1:p.Lys537Asn | |
| NM_001257387.2:c.819G>C | NP_001244316.1:p.Lys273Asn | |
| NM_001349956.2:c.1281G>C | NP_001336885.1:p.Lys427Asn |