Linked Data
ClinVar Variation Id:
141856
dbSNP Id:
rs17882942
ExAC:
22:29085131 G / C
gnomAD v2:
22-29085131-G-C
gnomAD v3:
22-28689143-G-C
gnomAD v4:
22-28689143-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28689143G>C , CM000684.2:g.28689143G>C | GRCh38 |
| NC_000022.10:g.29085131G>C , CM000684.1:g.29085131G>C | GRCh37 |
| NC_000022.9:g.27415131G>C | NCBI36 |
| NG_008150.1:g.57692C>G | |
| NG_008150.2:g.57724C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.*269C>G | ENSP00000518557.1:n.*269C>G | |
| ENST00000402731.6:c.1333C>G | ENSP00000384835.2:p.Leu445Val | |
| ENST00000404276.6:c.1534C>G MANE Select | ENSP00000385747.1:p.Leu512Val | |
| ENST00000425190.7:c.871C>G | ENSP00000390244.2:p.Leu291Val | |
| ENST00000464581.6:c.874C>G | ENSP00000483777.2:p.Leu292Val | |
| ENST00000648295.1:n.1086C>G | ||
| ENST00000649563.1:c.871C>G | ENSP00000496928.1:p.Leu291Val | |
| ENST00000650281.1:c.1534C>G | ENSP00000497000.1:p.Leu512Val | |
| ENST00000328354.10:c.1534C>G | ENSP00000329178.6:p.Leu512Val | |
| ENST00000348295.7:c.1447C>G | ENSP00000329012.5:p.Leu483Val | |
| ENST00000382580.6:c.1663C>G | ENSP00000372023.2:p.Leu555Val | |
| ENST00000402731.5:c.1447C>G | ENSP00000384835.1:p.Leu483Val | |
| ENST00000403642.5:c.1261C>G | ENSP00000384919.1:p.Leu421Val | |
| ENST00000404276.5:c.1534C>G | ENSP00000385747.1:p.Leu512Val | |
| ENST00000405598.5:c.1534C>G | ENSP00000386087.1:p.Leu512Val | |
| ENST00000416671.5:c.*1024C>G | ENSP00000402225.1:n.*1024C>G | |
| ENST00000417588.5:c.1443C>G | ENSP00000412901.1:n.1443C>G | |
| ENST00000433728.5:c.1472C>G | ENSP00000404400.1:n.1472C>G | |
| ENST00000434810.5:c.732C>G | ||
| ENST00000448511.5:c.1424C>G | ENSP00000404567.1:n.1424C>G | |
| ENST00000456369.5:c.336C>G | ||
| ENST00000472807.1:n.268C>G | ||
| NM_001005735.1:c.1663C>G | NP_001005735.1:p.Leu555Val | |
| NM_001257387.1:c.871C>G | NP_001244316.1:p.Leu291Val | |
| NM_007194.3:c.1534C>G | NP_009125.1:p.Leu512Val | |
| NM_145862.2:c.1447C>G | NP_665861.1:p.Leu483Val | |
| XM_006724114.2:c.1054C>G | XP_006724177.1:p.Leu352Val | |
| XM_006724116.2:c.991C>G | XP_006724179.2:p.Leu331Val | |
| XM_011529839.1:c.1693C>G | XP_011528141.1:p.Leu565Val | |
| XM_011529840.1:c.1606C>G | XP_011528142.1:p.Leu536Val | |
| XM_011529841.1:c.1462C>G | XP_011528143.1:p.Leu488Val | |
| XM_011529842.1:c.1363C>G | XP_011528144.1:p.Leu455Val | |
| XM_011529843.1:c.1333C>G | XP_011528145.1:p.Leu445Val | |
| XM_011529845.1:c.871C>G | XP_011528147.1:p.Leu291Val | |
| XR_937805.1:n.1693C>G | ||
| NM_001349956.1:c.1333C>G | NP_001336885.1:p.Leu445Val | |
| NM_007194.4:c.1534C>G MANE Select | NP_009125.1:p.Leu512Val | |
| XM_006724114.3:c.1087C>G | XP_006724177.2:p.Leu363Val | |
| XM_011529839.2:c.1693C>G | XP_011528141.1:p.Leu565Val | |
| XM_011529840.3:c.1606C>G | XP_011528142.1:p.Leu536Val | |
| XM_011529842.2:c.1363C>G | XP_011528144.1:p.Leu455Val | |
| XM_011529845.2:c.871C>G | XP_011528147.1:p.Leu291Val | |
| XM_017028560.1:c.1657C>G | XP_016884049.1:p.Leu553Val | |
| XM_017028561.2:c.871C>G | XP_016884050.1:p.Leu291Val | |
| XM_024452148.1:c.1564C>G | XP_024307916.1:p.Leu522Val | |
| XM_024452149.1:c.1477C>G | XP_024307917.1:p.Leu493Val | |
| XR_937805.2:n.1704C>G | ||
| NM_001005735.2:c.1663C>G | NP_001005735.1:p.Leu555Val | |
| NM_001257387.2:c.871C>G | NP_001244316.1:p.Leu291Val | |
| NM_001349956.2:c.1333C>G | NP_001336885.1:p.Leu445Val |