Linked Data
ClinVar Variation Id:
128086
dbSNP Id:
rs587780189
gnomAD v2:
22-29107938-T-A
gnomAD v3:
22-28711950-T-A
gnomAD v4:
22-28711950-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28711950T>A , CM000684.2:g.28711950T>A | GRCh38 |
| NC_000022.10:g.29107938T>A , CM000684.1:g.29107938T>A | GRCh37 |
| NC_000022.9:g.27437938T>A | NCBI36 |
| NG_008150.1:g.34885A>T | |
| NG_008150.2:g.34917A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439346.6:c.660A>T | ENSP00000396903.2:n.660A>T | |
| ENST00000711048.1:c.751A>T | ENSP00000518557.1:p.Ile251Phe | |
| ENST00000402731.6:c.550A>T | ENSP00000384835.2:p.Ile184Phe | |
| ENST00000404276.6:c.751A>T MANE Select | ENSP00000385747.1:p.Ile251Phe | |
| ENST00000425190.7:c.88A>T | ENSP00000390244.2:p.Ile30Phe | |
| ENST00000464581.6:c.91A>T | ENSP00000483777.2:p.Ile31Phe | |
| ENST00000648295.1:n.303A>T | ||
| ENST00000649563.1:c.88A>T | ENSP00000496928.1:p.Ile30Phe | |
| ENST00000650281.1:c.751A>T | ENSP00000497000.1:p.Ile251Phe | |
| ENST00000328354.10:c.751A>T | ENSP00000329178.6:p.Ile251Phe | |
| ENST00000348295.7:c.751A>T | ENSP00000329012.5:p.Ile251Phe | |
| ENST00000382580.6:c.880A>T | ENSP00000372023.2:p.Ile294Phe | |
| ENST00000402731.5:c.751A>T | ENSP00000384835.1:p.Ile251Phe | |
| ENST00000403642.5:c.478A>T | ENSP00000384919.1:p.Ile160Phe | |
| ENST00000404276.5:c.751A>T | ENSP00000385747.1:p.Ile251Phe | |
| ENST00000405598.5:c.751A>T | ENSP00000386087.1:p.Ile251Phe | |
| ENST00000416671.5:c.*241A>T | ENSP00000402225.1:n.*241A>T | |
| ENST00000417588.5:c.660A>T | ENSP00000412901.1:n.660A>T | |
| ENST00000425190.6:c.88A>T | ENSP00000390244.1:p.Ile30Phe | |
| ENST00000433028.6:c.*476A>T | ENSP00000403659.1:n.*476A>T | |
| ENST00000433728.5:c.751A>T | ENSP00000404400.1:p.Ile251Phe | |
| ENST00000439200.5:c.844A>T | ENSP00000408065.1:p.Ile282Phe | |
| ENST00000439346.5:c.222A>T | ENSP00000396903.1:n.222A>T | |
| ENST00000447421.5:c.550A>T | ENSP00000397478.2:p.Ile184Phe | |
| ENST00000448511.5:c.641A>T | ENSP00000404567.1:n.641A>T | |
| ENST00000456369.5:c.6A>T | ||
| ENST00000464581.5:c.91A>T | ENSP00000483777.1:p.Ile31Phe | |
| ENST00000491919.5:n.308A>T | ||
| NM_001005735.1:c.880A>T | NP_001005735.1:p.Ile294Phe | |
| NM_001257387.1:c.88A>T | NP_001244316.1:p.Ile30Phe | |
| NM_007194.3:c.751A>T | NP_009125.1:p.Ile251Phe | |
| NM_145862.2:c.751A>T | NP_665861.1:p.Ile251Phe | |
| XM_006724114.2:c.271A>T | XP_006724177.1:p.Ile91Phe | |
| XM_006724116.2:c.208A>T | XP_006724179.2:p.Ile70Phe | |
| XM_011529839.1:c.910A>T | XP_011528141.1:p.Ile304Phe | |
| XM_011529840.1:c.910A>T | XP_011528142.1:p.Ile304Phe | |
| XM_011529841.1:c.679A>T | XP_011528143.1:p.Ile227Phe | |
| XM_011529842.1:c.580A>T | XP_011528144.1:p.Ile194Phe | |
| XM_011529843.1:c.550A>T | XP_011528145.1:p.Ile184Phe | |
| XM_011529844.1:c.910A>T | XP_011528146.1:p.Ile304Phe | |
| XM_011529845.1:c.88A>T | XP_011528147.1:p.Ile30Phe | |
| XR_937805.1:n.972A>T | ||
| XR_937806.1:n.967A>T | ||
| XR_937807.1:n.967A>T | ||
| NM_001349956.1:c.550A>T | NP_001336885.1:p.Ile184Phe | |
| NM_007194.4:c.751A>T MANE Select | NP_009125.1:p.Ile251Phe | |
| XM_006724114.3:c.304A>T | XP_006724177.2:p.Ile102Phe | |
| XM_011529839.2:c.910A>T | XP_011528141.1:p.Ile304Phe | |
| XM_011529840.3:c.910A>T | XP_011528142.1:p.Ile304Phe | |
| XM_011529842.2:c.580A>T | XP_011528144.1:p.Ile194Phe | |
| XM_011529844.2:c.910A>T | XP_011528146.1:p.Ile304Phe | |
| XM_011529845.2:c.88A>T | XP_011528147.1:p.Ile30Phe | |
| XM_017028560.1:c.874A>T | XP_016884049.1:p.Ile292Phe | |
| XM_017028561.2:c.88A>T | XP_016884050.1:p.Ile30Phe | |
| XM_024452148.1:c.781A>T | XP_024307916.1:p.Ile261Phe | |
| XM_024452149.1:c.781A>T | XP_024307917.1:p.Ile261Phe | |
| XR_937805.2:n.983A>T | ||
| XR_937806.2:n.983A>T | ||
| XR_937807.2:n.983A>T | ||
| NM_001005735.2:c.880A>T | NP_001005735.1:p.Ile294Phe | |
| NM_001257387.2:c.88A>T | NP_001244316.1:p.Ile30Phe | |
| NM_001349956.2:c.550A>T | NP_001336885.1:p.Ile184Phe |