Linked Data
ClinVar Variation Id:
182435
dbSNP Id:
rs730881690
gnomAD v3:
22-28695791-G-A
gnomAD v4:
22-28695791-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28695791G>A , CM000684.2:g.28695791G>A | GRCh38 |
| NC_000022.10:g.29091779G>A , CM000684.1:g.29091779G>A | GRCh37 |
| NC_000022.9:g.27421779G>A | NCBI36 |
| NG_008150.1:g.51044C>T | |
| NG_008150.2:g.51076C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.1009-549C>T | ENSP00000518557.1:n.1009-549C>T | |
| ENST00000402731.6:c.977C>T | ENSP00000384835.2:p.Pro326Leu | |
| ENST00000404276.6:c.1178C>T MANE Select | ENSP00000385747.1:p.Pro393Leu | |
| ENST00000425190.7:c.515C>T | ENSP00000390244.2:p.Pro172Leu | |
| ENST00000464581.6:c.518C>T | ENSP00000483777.2:p.Pro173Leu | |
| ENST00000648295.1:n.730C>T | ||
| ENST00000649563.1:c.515C>T | ENSP00000496928.1:p.Pro172Leu | |
| ENST00000650281.1:c.1178C>T | ENSP00000497000.1:p.Pro393Leu | |
| ENST00000328354.10:c.1178C>T | ENSP00000329178.6:p.Pro393Leu | |
| ENST00000348295.7:c.1091C>T | ENSP00000329012.5:p.Pro364Leu | |
| ENST00000382580.6:c.1307C>T | ENSP00000372023.2:p.Pro436Leu | |
| ENST00000402731.5:c.1091C>T | ENSP00000384835.1:p.Pro364Leu | |
| ENST00000403642.5:c.905C>T | ENSP00000384919.1:p.Pro302Leu | |
| ENST00000404276.5:c.1178C>T | ENSP00000385747.1:p.Pro393Leu | |
| ENST00000405598.5:c.1178C>T | ENSP00000386087.1:p.Pro393Leu | |
| ENST00000416671.5:c.*668C>T | ENSP00000402225.1:n.*668C>T | |
| ENST00000417588.5:c.1087C>T | ENSP00000412901.1:n.1087C>T | |
| ENST00000433728.5:c.1116C>T | ENSP00000404400.1:n.1116C>T | |
| ENST00000434810.5:c.409C>T | ||
| ENST00000448511.5:c.1068C>T | ENSP00000404567.1:n.1068C>T | |
| ENST00000456369.5:c.263+4047C>T | ||
| NM_001005735.1:c.1307C>T | NP_001005735.1:p.Pro436Leu | |
| NM_001257387.1:c.515C>T | NP_001244316.1:p.Pro172Leu | |
| NM_007194.3:c.1178C>T | NP_009125.1:p.Pro393Leu | |
| NM_145862.2:c.1091C>T | NP_665861.1:p.Pro364Leu | |
| XM_006724114.2:c.698C>T | XP_006724177.1:p.Pro233Leu | |
| XM_006724116.2:c.635C>T | XP_006724179.2:p.Pro212Leu | |
| XM_011529839.1:c.1337C>T | XP_011528141.1:p.Pro446Leu | |
| XM_011529840.1:c.1250C>T | XP_011528142.1:p.Pro417Leu | |
| XM_011529841.1:c.1106C>T | XP_011528143.1:p.Pro369Leu | |
| XM_011529842.1:c.1007C>T | XP_011528144.1:p.Pro336Leu | |
| XM_011529843.1:c.977C>T | XP_011528145.1:p.Pro326Leu | |
| XM_011529845.1:c.515C>T | XP_011528147.1:p.Pro172Leu | |
| XR_937805.1:n.1337C>T | ||
| XR_937806.1:n.1245C>T | ||
| NM_001349956.1:c.977C>T | NP_001336885.1:p.Pro326Leu | |
| NM_007194.4:c.1178C>T MANE Select | NP_009125.1:p.Pro393Leu | |
| XM_006724114.3:c.731C>T | XP_006724177.2:p.Pro244Leu | |
| XM_011529839.2:c.1337C>T | XP_011528141.1:p.Pro446Leu | |
| XM_011529840.3:c.1250C>T | XP_011528142.1:p.Pro417Leu | |
| XM_011529842.2:c.1007C>T | XP_011528144.1:p.Pro336Leu | |
| XM_011529845.2:c.515C>T | XP_011528147.1:p.Pro172Leu | |
| XM_017028560.1:c.1301C>T | XP_016884049.1:p.Pro434Leu | |
| XM_017028561.2:c.515C>T | XP_016884050.1:p.Pro172Leu | |
| XM_024452148.1:c.1208C>T | XP_024307916.1:p.Pro403Leu | |
| XM_024452149.1:c.1121C>T | XP_024307917.1:p.Pro374Leu | |
| XR_937805.2:n.1348C>T | ||
| XR_937806.2:n.1261C>T | ||
| NM_001005735.2:c.1307C>T | NP_001005735.1:p.Pro436Leu | |
| NM_001257387.2:c.515C>T | NP_001244316.1:p.Pro172Leu | |
| NM_001349956.2:c.977C>T | NP_001336885.1:p.Pro326Leu |