gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001535 (NFE)
Exomes Max Group AF
0.00001545 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28695215C>T , CM000684.2:g.28695215C>T | GRCh38 |
| NC_000022.10:g.29091203C>T , CM000684.1:g.29091203C>T | GRCh37 |
| NC_000022.9:g.27421203C>T | NCBI36 |
| NG_008150.1:g.51620G>A | |
| NG_008150.2:g.51652G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.*22G>A | ENSP00000518557.1:n.*22G>A | |
| ENST00000402731.6:c.1086G>A | ENSP00000384835.2:p.Glu362= | |
| ENST00000404276.6:c.1287G>A MANE Select | ENSP00000385747.1:p.Glu429= | |
| ENST00000425190.7:c.624G>A | ENSP00000390244.2:p.Glu208= | |
| ENST00000464581.6:c.627G>A | ENSP00000483777.2:p.Glu209= | |
| ENST00000648295.1:n.839G>A | ||
| ENST00000649563.1:c.624G>A | ENSP00000496928.1:p.Glu208= | |
| ENST00000650281.1:c.1287G>A | ENSP00000497000.1:p.Glu429= | |
| ENST00000328354.10:c.1287G>A | ENSP00000329178.6:p.Glu429= | |
| ENST00000348295.7:c.1200G>A | ENSP00000329012.5:p.Glu400= | |
| ENST00000382580.6:c.1416G>A | ENSP00000372023.2:p.Glu472= | |
| ENST00000402731.5:c.1200G>A | ENSP00000384835.1:p.Glu400= | |
| ENST00000403642.5:c.1014G>A | ENSP00000384919.1:p.Glu338= | |
| ENST00000404276.5:c.1287G>A | ENSP00000385747.1:p.Glu429= | |
| ENST00000405598.5:c.1287G>A | ENSP00000386087.1:p.Glu429= | |
| ENST00000416671.5:c.*777G>A | ENSP00000402225.1:n.*777G>A | |
| ENST00000417588.5:c.1196G>A | ENSP00000412901.1:n.1196G>A | |
| ENST00000433728.5:c.1225G>A | ENSP00000404400.1:n.1225G>A | |
| ENST00000434810.5:c.491-6G>A | ||
| ENST00000448511.5:c.1177G>A | ENSP00000404567.1:n.1177G>A | |
| ENST00000456369.5:c.263+4623G>A | ||
| NM_001005735.1:c.1416G>A | NP_001005735.1:p.Glu472= | |
| NM_001257387.1:c.624G>A | NP_001244316.1:p.Glu208= | |
| NM_007194.3:c.1287G>A | NP_009125.1:p.Glu429= | |
| NM_145862.2:c.1200G>A | NP_665861.1:p.Glu400= | |
| XM_006724114.2:c.807G>A | XP_006724177.1:p.Glu269= | |
| XM_006724116.2:c.744G>A | XP_006724179.2:p.Glu248= | |
| XM_011529839.1:c.1446G>A | XP_011528141.1:p.Glu482= | |
| XM_011529840.1:c.1359G>A | XP_011528142.1:p.Glu453= | |
| XM_011529841.1:c.1215G>A | XP_011528143.1:p.Glu405= | |
| XM_011529842.1:c.1116G>A | XP_011528144.1:p.Glu372= | |
| XM_011529843.1:c.1086G>A | XP_011528145.1:p.Glu362= | |
| XM_011529845.1:c.624G>A | XP_011528147.1:p.Glu208= | |
| XR_937805.1:n.1446G>A | ||
| NM_001349956.1:c.1086G>A | NP_001336885.1:p.Glu362= | |
| NM_007194.4:c.1287G>A MANE Select | NP_009125.1:p.Glu429= | |
| XM_006724114.3:c.840G>A | XP_006724177.2:p.Glu280= | |
| XM_011529839.2:c.1446G>A | XP_011528141.1:p.Glu482= | |
| XM_011529840.3:c.1359G>A | XP_011528142.1:p.Glu453= | |
| XM_011529842.2:c.1116G>A | XP_011528144.1:p.Glu372= | |
| XM_011529845.2:c.624G>A | XP_011528147.1:p.Glu208= | |
| XM_017028560.1:c.1410G>A | XP_016884049.1:p.Glu470= | |
| XM_017028561.2:c.624G>A | XP_016884050.1:p.Glu208= | |
| XM_024452148.1:c.1317G>A | XP_024307916.1:p.Glu439= | |
| XM_024452149.1:c.1230G>A | XP_024307917.1:p.Glu410= | |
| XR_937805.2:n.1457G>A | ||
| NM_001005735.2:c.1416G>A | NP_001005735.1:p.Glu472= | |
| NM_001257387.2:c.624G>A | NP_001244316.1:p.Glu208= | |
| NM_001349956.2:c.1086G>A | NP_001336885.1:p.Glu362= |