Linked Data
ClinVar Variation Id:
142448
ClinVar RCV Id:
RCV000131577
RCV000199653
RCV000212433
RCV000586622
RCV000791342
RCV003389239
RCV003153427
dbSNP Id:
rs587782471
ExAC:
22:29107982 A / G
gnomAD v2:
22-29107982-A-G
gnomAD v3:
22-28711994-A-G
gnomAD v4:
22-28711994-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28711994A>G , CM000684.2:g.28711994A>G | GRCh38 |
| NC_000022.10:g.29107982A>G , CM000684.1:g.29107982A>G | GRCh37 |
| NC_000022.9:g.27437982A>G | NCBI36 |
| NG_008150.1:g.34841T>C | |
| NG_008150.2:g.34873T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439346.6:c.616T>C | ENSP00000396903.2:n.616T>C | |
| ENST00000711048.1:c.707T>C | ENSP00000518557.1:p.Leu236Pro | |
| ENST00000402731.6:c.506T>C | ENSP00000384835.2:p.Leu169Pro | |
| ENST00000404276.6:c.707T>C MANE Select | ENSP00000385747.1:p.Leu236Pro | |
| ENST00000425190.7:c.44T>C | ENSP00000390244.2:p.Leu15Pro | |
| ENST00000464581.6:c.47T>C | ENSP00000483777.2:p.Leu16Pro | |
| ENST00000648295.1:n.259T>C | ||
| ENST00000649563.1:c.44T>C | ENSP00000496928.1:p.Leu15Pro | |
| ENST00000650281.1:c.707T>C | ENSP00000497000.1:p.Leu236Pro | |
| ENST00000328354.10:c.707T>C | ENSP00000329178.6:p.Leu236Pro | |
| ENST00000348295.7:c.707T>C | ENSP00000329012.5:p.Leu236Pro | |
| ENST00000382580.6:c.836T>C | ENSP00000372023.2:p.Leu279Pro | |
| ENST00000402731.5:c.707T>C | ENSP00000384835.1:p.Leu236Pro | |
| ENST00000403642.5:c.434T>C | ENSP00000384919.1:p.Leu145Pro | |
| ENST00000404276.5:c.707T>C | ENSP00000385747.1:p.Leu236Pro | |
| ENST00000405598.5:c.707T>C | ENSP00000386087.1:p.Leu236Pro | |
| ENST00000416671.5:c.*197T>C | ENSP00000402225.1:n.*197T>C | |
| ENST00000417588.5:c.616T>C | ENSP00000412901.1:n.616T>C | |
| ENST00000425190.6:c.44T>C | ENSP00000390244.1:p.Leu15Pro | |
| ENST00000433028.6:c.*432T>C | ENSP00000403659.1:n.*432T>C | |
| ENST00000433728.5:c.707T>C | ENSP00000404400.1:p.Leu236Pro | |
| ENST00000439200.5:c.800T>C | ENSP00000408065.1:p.Leu267Pro | |
| ENST00000439346.5:c.178T>C | ENSP00000396903.1:n.178T>C | |
| ENST00000447421.5:c.506T>C | ENSP00000397478.2:p.Leu169Pro | |
| ENST00000448511.5:c.597T>C | ENSP00000404567.1:n.597T>C | |
| ENST00000464581.5:c.47T>C | ENSP00000483777.1:p.Leu16Pro | |
| ENST00000491919.5:n.264T>C | ||
| NM_001005735.1:c.836T>C | NP_001005735.1:p.Leu279Pro | |
| NM_001257387.1:c.44T>C | NP_001244316.1:p.Leu15Pro | |
| NM_007194.3:c.707T>C | NP_009125.1:p.Leu236Pro | |
| NM_145862.2:c.707T>C | NP_665861.1:p.Leu236Pro | |
| XM_006724114.2:c.227T>C | XP_006724177.1:p.Leu76Pro | |
| XM_006724116.2:c.164T>C | XP_006724179.2:p.Leu55Pro | |
| XM_011529839.1:c.866T>C | XP_011528141.1:p.Leu289Pro | |
| XM_011529840.1:c.866T>C | XP_011528142.1:p.Leu289Pro | |
| XM_011529841.1:c.635T>C | XP_011528143.1:p.Leu212Pro | |
| XM_011529842.1:c.536T>C | XP_011528144.1:p.Leu179Pro | |
| XM_011529843.1:c.506T>C | XP_011528145.1:p.Leu169Pro | |
| XM_011529844.1:c.866T>C | XP_011528146.1:p.Leu289Pro | |
| XM_011529845.1:c.44T>C | XP_011528147.1:p.Leu15Pro | |
| XR_937805.1:n.928T>C | ||
| XR_937806.1:n.923T>C | ||
| XR_937807.1:n.923T>C | ||
| NM_001349956.1:c.506T>C | NP_001336885.1:p.Leu169Pro | |
| NM_007194.4:c.707T>C MANE Select | NP_009125.1:p.Leu236Pro | |
| XM_006724114.3:c.260T>C | XP_006724177.2:p.Leu87Pro | |
| XM_011529839.2:c.866T>C | XP_011528141.1:p.Leu289Pro | |
| XM_011529840.3:c.866T>C | XP_011528142.1:p.Leu289Pro | |
| XM_011529842.2:c.536T>C | XP_011528144.1:p.Leu179Pro | |
| XM_011529844.2:c.866T>C | XP_011528146.1:p.Leu289Pro | |
| XM_011529845.2:c.44T>C | XP_011528147.1:p.Leu15Pro | |
| XM_017028560.1:c.830T>C | XP_016884049.1:p.Leu277Pro | |
| XM_017028561.2:c.44T>C | XP_016884050.1:p.Leu15Pro | |
| XM_024452148.1:c.737T>C | XP_024307916.1:p.Leu246Pro | |
| XM_024452149.1:c.737T>C | XP_024307917.1:p.Leu246Pro | |
| XR_937805.2:n.939T>C | ||
| XR_937806.2:n.939T>C | ||
| XR_937807.2:n.939T>C | ||
| NM_001005735.2:c.836T>C | NP_001005735.1:p.Leu279Pro | |
| NM_001257387.2:c.44T>C | NP_001244316.1:p.Leu15Pro | |
| NM_001349956.2:c.506T>C | NP_001336885.1:p.Leu169Pro |