Linked Data
ClinVar Variation Id:
128048
dbSNP Id:
rs587780169
ExAC:
22:29091777 C / T
gnomAD v2:
22-29091777-C-T
gnomAD v3:
22-28695789-C-T
gnomAD v4:
22-28695789-C-T
COSMIC:
COSM1682176
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28695789C>T , CM000684.2:g.28695789C>T | GRCh38 |
| NC_000022.10:g.29091777C>T , CM000684.1:g.29091777C>T | GRCh37 |
| NC_000022.9:g.27421777C>T | NCBI36 |
| NG_008150.1:g.51046G>A | |
| NG_008150.2:g.51078G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.1009-547G>A | ENSP00000518557.1:n.1009-547G>A | |
| ENST00000402731.6:c.979G>A | ENSP00000384835.2:p.Glu327Lys | |
| ENST00000404276.6:c.1180G>A MANE Select | ENSP00000385747.1:p.Glu394Lys | |
| ENST00000425190.7:c.517G>A | ENSP00000390244.2:p.Glu173Lys | |
| ENST00000464581.6:c.520G>A | ENSP00000483777.2:p.Glu174Lys | |
| ENST00000648295.1:n.732G>A | ||
| ENST00000649563.1:c.517G>A | ENSP00000496928.1:p.Glu173Lys | |
| ENST00000650281.1:c.1180G>A | ENSP00000497000.1:p.Glu394Lys | |
| ENST00000328354.10:c.1180G>A | ENSP00000329178.6:p.Glu394Lys | |
| ENST00000348295.7:c.1093G>A | ENSP00000329012.5:p.Glu365Lys | |
| ENST00000382580.6:c.1309G>A | ENSP00000372023.2:p.Glu437Lys | |
| ENST00000402731.5:c.1093G>A | ENSP00000384835.1:p.Glu365Lys | |
| ENST00000403642.5:c.907G>A | ENSP00000384919.1:p.Glu303Lys | |
| ENST00000404276.5:c.1180G>A | ENSP00000385747.1:p.Glu394Lys | |
| ENST00000405598.5:c.1180G>A | ENSP00000386087.1:p.Glu394Lys | |
| ENST00000416671.5:c.*670G>A | ENSP00000402225.1:n.*670G>A | |
| ENST00000417588.5:c.1089G>A | ENSP00000412901.1:n.1089G>A | |
| ENST00000433728.5:c.1118G>A | ENSP00000404400.1:n.1118G>A | |
| ENST00000434810.5:c.411G>A | ||
| ENST00000448511.5:c.1070G>A | ENSP00000404567.1:n.1070G>A | |
| ENST00000456369.5:c.263+4049G>A | ||
| NM_001005735.1:c.1309G>A | NP_001005735.1:p.Glu437Lys | |
| NM_001257387.1:c.517G>A | NP_001244316.1:p.Glu173Lys | |
| NM_007194.3:c.1180G>A | NP_009125.1:p.Glu394Lys | |
| NM_145862.2:c.1093G>A | NP_665861.1:p.Glu365Lys | |
| XM_006724114.2:c.700G>A | XP_006724177.1:p.Glu234Lys | |
| XM_006724116.2:c.637G>A | XP_006724179.2:p.Glu213Lys | |
| XM_011529839.1:c.1339G>A | XP_011528141.1:p.Glu447Lys | |
| XM_011529840.1:c.1252G>A | XP_011528142.1:p.Glu418Lys | |
| XM_011529841.1:c.1108G>A | XP_011528143.1:p.Glu370Lys | |
| XM_011529842.1:c.1009G>A | XP_011528144.1:p.Glu337Lys | |
| XM_011529843.1:c.979G>A | XP_011528145.1:p.Glu327Lys | |
| XM_011529845.1:c.517G>A | XP_011528147.1:p.Glu173Lys | |
| XR_937805.1:n.1339G>A | ||
| XR_937806.1:n.1247G>A | ||
| NM_001349956.1:c.979G>A | NP_001336885.1:p.Glu327Lys | |
| NM_007194.4:c.1180G>A MANE Select | NP_009125.1:p.Glu394Lys | |
| XM_006724114.3:c.733G>A | XP_006724177.2:p.Glu245Lys | |
| XM_011529839.2:c.1339G>A | XP_011528141.1:p.Glu447Lys | |
| XM_011529840.3:c.1252G>A | XP_011528142.1:p.Glu418Lys | |
| XM_011529842.2:c.1009G>A | XP_011528144.1:p.Glu337Lys | |
| XM_011529845.2:c.517G>A | XP_011528147.1:p.Glu173Lys | |
| XM_017028560.1:c.1303G>A | XP_016884049.1:p.Glu435Lys | |
| XM_017028561.2:c.517G>A | XP_016884050.1:p.Glu173Lys | |
| XM_024452148.1:c.1210G>A | XP_024307916.1:p.Glu404Lys | |
| XM_024452149.1:c.1123G>A | XP_024307917.1:p.Glu375Lys | |
| XR_937805.2:n.1350G>A | ||
| XR_937806.2:n.1263G>A | ||
| NM_001005735.2:c.1309G>A | NP_001005735.1:p.Glu437Lys | |
| NM_001257387.2:c.517G>A | NP_001244316.1:p.Glu173Lys | |
| NM_001349956.2:c.979G>A | NP_001336885.1:p.Glu327Lys |