Linked Data
ClinVar Variation Id:
128082
dbSNP Id:
rs587780185
ExAC:
22:29120992 T / C
gnomAD v2:
22-29120992-T-C
gnomAD v3:
22-28725004-T-C
gnomAD v4:
22-28725004-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28725004T>C , CM000684.2:g.28725004T>C | GRCh38 |
| NC_000022.10:g.29120992T>C , CM000684.1:g.29120992T>C | GRCh37 |
| NC_000022.9:g.27450992T>C | NCBI36 |
| NG_008150.1:g.21831A>G | |
| NG_008150.2:g.21863A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439346.6:c.565A>G | ENSP00000396903.2:p.Ile189Val | |
| ENST00000454252.2:c.*545A>G | ENSP00000387451.2:n.*545A>G | |
| ENST00000711048.1:c.565A>G | ENSP00000518557.1:p.Ile189Val | |
| ENST00000402731.6:c.445-81A>G | ENSP00000384835.2:n.445-81A>G | |
| ENST00000404276.6:c.565A>G MANE Select | ENSP00000385747.1:p.Ile189Val | |
| ENST00000425190.7:c.-99A>G | ENSP00000390244.2:n.-99A>G | |
| ENST00000649563.1:c.-71-5519A>G | ENSP00000496928.1:n.-71-5519A>G | |
| ENST00000650281.1:c.565A>G | ENSP00000497000.1:p.Ile189Val | |
| ENST00000328354.10:c.565A>G | ENSP00000329178.6:p.Ile189Val | |
| ENST00000348295.7:c.565A>G | ENSP00000329012.5:p.Ile189Val | |
| ENST00000382565.5:c.565A>G | ENSP00000372006.2:p.Ile189Val | |
| ENST00000382580.6:c.694A>G | ENSP00000372023.2:p.Ile232Val | |
| ENST00000402731.5:c.565A>G | ENSP00000384835.1:p.Ile189Val | |
| ENST00000403642.5:c.320-5519A>G | ENSP00000384919.1:n.320-5519A>G | |
| ENST00000404276.5:c.565A>G | ENSP00000385747.1:p.Ile189Val | |
| ENST00000405598.5:c.565A>G | ENSP00000386087.1:p.Ile189Val | |
| ENST00000416671.5:c.565A>G | ENSP00000402225.1:p.Ile189Val | |
| ENST00000417588.5:c.565A>G | ENSP00000412901.1:p.Ile189Val | |
| ENST00000425190.6:c.-99A>G | ENSP00000390244.1:n.-99A>G | |
| ENST00000433028.6:c.445-81A>G | ENSP00000403659.1:n.445-81A>G | |
| ENST00000433728.5:c.565A>G | ENSP00000404400.1:p.Ile189Val | |
| ENST00000439200.5:c.658A>G | ENSP00000408065.1:p.Ile220Val | |
| ENST00000439346.5:c.127A>G | ENSP00000396903.1:p.Ile43Val | |
| ENST00000447421.5:c.445-81A>G | ENSP00000397478.2:n.445-81A>G | |
| ENST00000448511.5:c.445-81A>G | ENSP00000404567.1:n.445-81A>G | |
| ENST00000454252.1:c.683A>G | ENSP00000387451.1:n.683A>G | |
| NM_001005735.1:c.694A>G | NP_001005735.1:p.Ile232Val | |
| NM_001257387.1:c.-213A>G | NP_001244316.1:n.-213A>G | |
| NM_007194.3:c.565A>G | NP_009125.1:p.Ile189Val | |
| NM_145862.2:c.565A>G | NP_665861.1:p.Ile189Val | |
| XM_011529839.1:c.724A>G | XP_011528141.1:p.Ile242Val | |
| XM_011529840.1:c.724A>G | XP_011528142.1:p.Ile242Val | |
| XM_011529841.1:c.574-81A>G | XP_011528143.1:n.574-81A>G | |
| XM_011529842.1:c.475-81A>G | XP_011528144.1:n.475-81A>G | |
| XM_011529843.1:c.445-81A>G | XP_011528145.1:n.445-81A>G | |
| XM_011529844.1:c.724A>G | XP_011528146.1:p.Ile242Val | |
| XM_011529845.1:c.-99A>G | XP_011528147.1:n.-99A>G | |
| XR_937805.1:n.786A>G | ||
| XR_937806.1:n.781A>G | ||
| XR_937807.1:n.781A>G | ||
| NM_001349956.1:c.445-81A>G | NP_001336885.1:n.445-81A>G | |
| NM_007194.4:c.565A>G MANE Select | NP_009125.1:p.Ile189Val | |
| XM_011529839.2:c.724A>G | XP_011528141.1:p.Ile242Val | |
| XM_011529840.3:c.724A>G | XP_011528142.1:p.Ile242Val | |
| XM_011529842.2:c.475-81A>G | XP_011528144.1:n.475-81A>G | |
| XM_011529844.2:c.724A>G | XP_011528146.1:p.Ile242Val | |
| XM_011529845.2:c.-99A>G | XP_011528147.1:n.-99A>G | |
| XM_017028560.1:c.688A>G | XP_016884049.1:p.Ile230Val | |
| XM_024452148.1:c.595A>G | XP_024307916.1:p.Ile199Val | |
| XM_024452149.1:c.595A>G | XP_024307917.1:p.Ile199Val | |
| XR_937805.2:n.797A>G | ||
| XR_937806.2:n.797A>G | ||
| XR_937807.2:n.797A>G | ||
| NM_001005735.2:c.694A>G | NP_001005735.1:p.Ile232Val | |
| NM_001257387.2:c.-213A>G | NP_001244316.1:n.-213A>G | |
| NM_001349956.2:c.445-81A>G | NP_001336885.1:n.445-81A>G |