ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00032311 (MID)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.0003412 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28699915C>T , CM000684.2:g.28699915C>T | GRCh38 |
| NC_000022.10:g.29095903C>T , CM000684.1:g.29095903C>T | GRCh37 |
| NC_000022.9:g.27425903C>T | NCBI36 |
| NG_008150.1:g.46920G>A | |
| NG_008150.2:g.46952G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439346.6:c.840G>A | ENSP00000396903.2:n.840G>A | |
| ENST00000711048.1:c.931G>A | ENSP00000518557.1:p.Asp311Asn | |
| ENST00000402731.6:c.730G>A | ENSP00000384835.2:p.Asp244Asn | |
| ENST00000404276.6:c.931G>A MANE Select | ENSP00000385747.1:p.Asp311Asn | |
| ENST00000425190.7:c.268G>A | ENSP00000390244.2:p.Asp90Asn | |
| ENST00000464581.6:c.271G>A | ENSP00000483777.2:p.Asp91Asn | |
| ENST00000648295.1:n.483G>A | ||
| ENST00000649563.1:c.268G>A | ENSP00000496928.1:p.Asp90Asn | |
| ENST00000650281.1:c.931G>A | ENSP00000497000.1:p.Asp311Asn | |
| ENST00000328354.10:c.931G>A | ENSP00000329178.6:p.Asp311Asn | |
| ENST00000348295.7:c.931G>A | ENSP00000329012.5:p.Asp311Asn | |
| ENST00000382580.6:c.1060G>A | ENSP00000372023.2:p.Asp354Asn | |
| ENST00000402731.5:c.931G>A | ENSP00000384835.1:p.Asp311Asn | |
| ENST00000403642.5:c.658G>A | ENSP00000384919.1:p.Asp220Asn | |
| ENST00000404276.5:c.931G>A | ENSP00000385747.1:p.Asp311Asn | |
| ENST00000405598.5:c.931G>A | ENSP00000386087.1:p.Asp311Asn | |
| ENST00000416671.5:c.*421G>A | ENSP00000402225.1:n.*421G>A | |
| ENST00000417588.5:c.840G>A | ENSP00000412901.1:n.840G>A | |
| ENST00000425190.6:c.268G>A | ENSP00000390244.1:p.Asp90Asn | |
| ENST00000433028.6:c.*656G>A | ENSP00000403659.1:n.*656G>A | |
| ENST00000433728.5:c.869G>A | ENSP00000404400.1:p.Ter290= | |
| ENST00000434810.5:c.162G>A | ||
| ENST00000439346.5:c.402G>A | ENSP00000396903.1:n.402G>A | |
| ENST00000447421.5:c.730G>A | ENSP00000397478.2:p.Asp244Asn | |
| ENST00000448511.5:c.821G>A | ENSP00000404567.1:n.821G>A | |
| ENST00000456369.5:c.186G>A | ||
| ENST00000464581.5:c.271G>A | ENSP00000483777.1:p.Asp91Asn | |
| ENST00000491919.5:n.488G>A | ||
| NM_001005735.1:c.1060G>A | NP_001005735.1:p.Asp354Asn | |
| NM_001257387.1:c.268G>A | NP_001244316.1:p.Asp90Asn | |
| NM_007194.3:c.931G>A | NP_009125.1:p.Asp311Asn | |
| NM_145862.2:c.931G>A | NP_665861.1:p.Asp311Asn | |
| XM_006724114.2:c.451G>A | XP_006724177.1:p.Asp151Asn | |
| XM_006724116.2:c.388G>A | XP_006724179.2:p.Asp130Asn | |
| XM_011529839.1:c.1090G>A | XP_011528141.1:p.Asp364Asn | |
| XM_011529840.1:c.1090G>A | XP_011528142.1:p.Asp364Asn | |
| XM_011529841.1:c.859G>A | XP_011528143.1:p.Asp287Asn | |
| XM_011529842.1:c.760G>A | XP_011528144.1:p.Asp254Asn | |
| XM_011529843.1:c.730G>A | XP_011528145.1:p.Asp244Asn | |
| XM_011529844.1:c.1090G>A | XP_011528146.1:p.Asp364Asn | |
| XM_011529845.1:c.268G>A | XP_011528147.1:p.Asp90Asn | |
| XR_937805.1:n.1090G>A | ||
| XR_937806.1:n.1085G>A | ||
| XR_937807.1:n.1085G>A | ||
| NM_001349956.1:c.730G>A | NP_001336885.1:p.Asp244Asn | |
| NM_007194.4:c.931G>A MANE Select | NP_009125.1:p.Asp311Asn | |
| XM_006724114.3:c.484G>A | XP_006724177.2:p.Asp162Asn | |
| XM_011529839.2:c.1090G>A | XP_011528141.1:p.Asp364Asn | |
| XM_011529840.3:c.1090G>A | XP_011528142.1:p.Asp364Asn | |
| XM_011529842.2:c.760G>A | XP_011528144.1:p.Asp254Asn | |
| XM_011529844.2:c.1090G>A | XP_011528146.1:p.Asp364Asn | |
| XM_011529845.2:c.268G>A | XP_011528147.1:p.Asp90Asn | |
| XM_017028560.1:c.1054G>A | XP_016884049.1:p.Asp352Asn | |
| XM_017028561.2:c.268G>A | XP_016884050.1:p.Asp90Asn | |
| XM_024452148.1:c.961G>A | XP_024307916.1:p.Asp321Asn | |
| XM_024452149.1:c.961G>A | XP_024307917.1:p.Asp321Asn | |
| XR_937805.2:n.1101G>A | ||
| XR_937806.2:n.1101G>A | ||
| XR_937807.2:n.1101G>A | ||
| NM_001005735.2:c.1060G>A | NP_001005735.1:p.Asp354Asn | |
| NM_001257387.2:c.268G>A | NP_001244316.1:p.Asp90Asn | |
| NM_001349956.2:c.730G>A | NP_001336885.1:p.Asp244Asn |