ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008426 (NFE)
Genomes Max Group AF
0.00005289 (AMR)
Exomes Max Group AF
0.00008853 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28695754G>T , CM000684.2:g.28695754G>T | GRCh38 |
| NC_000022.10:g.29091742G>T , CM000684.1:g.29091742G>T | GRCh37 |
| NC_000022.9:g.27421742G>T | NCBI36 |
| NG_008150.1:g.51081C>A | |
| NG_008150.2:g.51113C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.1009-512C>A | ENSP00000518557.1:n.1009-512C>A | |
| ENST00000402731.6:c.1014C>A | ENSP00000384835.2:p.Asn338Lys | |
| ENST00000404276.6:c.1215C>A MANE Select | ENSP00000385747.1:p.Asn405Lys | |
| ENST00000425190.7:c.552C>A | ENSP00000390244.2:p.Asn184Lys | |
| ENST00000464581.6:c.555C>A | ENSP00000483777.2:p.Asn185Lys | |
| ENST00000648295.1:n.767C>A | ||
| ENST00000649563.1:c.552C>A | ENSP00000496928.1:p.Asn184Lys | |
| ENST00000650281.1:c.1215C>A | ENSP00000497000.1:p.Asn405Lys | |
| ENST00000328354.10:c.1215C>A | ENSP00000329178.6:p.Asn405Lys | |
| ENST00000348295.7:c.1128C>A | ENSP00000329012.5:p.Asn376Lys | |
| ENST00000382580.6:c.1344C>A | ENSP00000372023.2:p.Asn448Lys | |
| ENST00000402731.5:c.1128C>A | ENSP00000384835.1:p.Asn376Lys | |
| ENST00000403642.5:c.942C>A | ENSP00000384919.1:p.Asn314Lys | |
| ENST00000404276.5:c.1215C>A | ENSP00000385747.1:p.Asn405Lys | |
| ENST00000405598.5:c.1215C>A | ENSP00000386087.1:p.Asn405Lys | |
| ENST00000416671.5:c.*705C>A | ENSP00000402225.1:n.*705C>A | |
| ENST00000417588.5:c.1124C>A | ENSP00000412901.1:n.1124C>A | |
| ENST00000433728.5:c.1153C>A | ENSP00000404400.1:n.1153C>A | |
| ENST00000434810.5:c.446C>A | ||
| ENST00000448511.5:c.1105C>A | ENSP00000404567.1:n.1105C>A | |
| ENST00000456369.5:c.263+4084C>A | ||
| NM_001005735.1:c.1344C>A | NP_001005735.1:p.Asn448Lys | |
| NM_001257387.1:c.552C>A | NP_001244316.1:p.Asn184Lys | |
| NM_007194.3:c.1215C>A | NP_009125.1:p.Asn405Lys | |
| NM_145862.2:c.1128C>A | NP_665861.1:p.Asn376Lys | |
| XM_006724114.2:c.735C>A | XP_006724177.1:p.Asn245Lys | |
| XM_006724116.2:c.672C>A | XP_006724179.2:p.Asn224Lys | |
| XM_011529839.1:c.1374C>A | XP_011528141.1:p.Asn458Lys | |
| XM_011529840.1:c.1287C>A | XP_011528142.1:p.Asn429Lys | |
| XM_011529841.1:c.1143C>A | XP_011528143.1:p.Asn381Lys | |
| XM_011529842.1:c.1044C>A | XP_011528144.1:p.Asn348Lys | |
| XM_011529843.1:c.1014C>A | XP_011528145.1:p.Asn338Lys | |
| XM_011529845.1:c.552C>A | XP_011528147.1:p.Asn184Lys | |
| XR_937805.1:n.1374C>A | ||
| NM_001349956.1:c.1014C>A | NP_001336885.1:p.Asn338Lys | |
| NM_007194.4:c.1215C>A MANE Select | NP_009125.1:p.Asn405Lys | |
| XM_006724114.3:c.768C>A | XP_006724177.2:p.Asn256Lys | |
| XM_011529839.2:c.1374C>A | XP_011528141.1:p.Asn458Lys | |
| XM_011529840.3:c.1287C>A | XP_011528142.1:p.Asn429Lys | |
| XM_011529842.2:c.1044C>A | XP_011528144.1:p.Asn348Lys | |
| XM_011529845.2:c.552C>A | XP_011528147.1:p.Asn184Lys | |
| XM_017028560.1:c.1338C>A | XP_016884049.1:p.Asn446Lys | |
| XM_017028561.2:c.552C>A | XP_016884050.1:p.Asn184Lys | |
| XM_024452148.1:c.1245C>A | XP_024307916.1:p.Asn415Lys | |
| XM_024452149.1:c.1158C>A | XP_024307917.1:p.Asn386Lys | |
| XR_937805.2:n.1385C>A | ||
| NM_001005735.2:c.1344C>A | NP_001005735.1:p.Asn448Lys | |
| NM_001257387.2:c.552C>A | NP_001244316.1:p.Asn184Lys | |
| NM_001349956.2:c.1014C>A | NP_001336885.1:p.Asn338Lys |