Linked Data
ClinVar Variation Id:
341638
dbSNP Id:
rs886057503
gnomAD v2:
22-38519162-G-C
gnomAD v3:
22-38123155-G-C
gnomAD v4:
22-38123155-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.38123155G>C , CM000684.2:g.38123155G>C | GRCh38 |
| NC_000022.10:g.38519162G>C , CM000684.1:g.38519162G>C | GRCh37 |
| NC_000022.9:g.36849108G>C | NCBI36 |
| NG_007094.2:g.87536C>G | |
| NG_007094.3:g.96624C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332509.8:c.1531C>G MANE Select | ENSP00000333142.3:p.Leu511Val | |
| ENST00000427114.6:c.835C>G | ENSP00000407743.2:p.Leu279Val | |
| ENST00000436218.6:c.*729C>G | ENSP00000401242.1:n.*729C>G | |
| ENST00000655142.1:c.*389C>G | ENSP00000499715.1:n.*389C>G | |
| ENST00000660610.1:c.1531C>G | ENSP00000499555.1:p.Leu511Val | |
| ENST00000663895.1:c.1531C>G | ENSP00000499712.1:p.Leu511Val | |
| ENST00000664587.1:c.1393C>G | ENSP00000499394.1:p.Leu465Val | |
| ENST00000665987.1:c.*1270C>G | ENSP00000499423.1:n.*1270C>G | |
| ENST00000667521.1:c.1531C>G | ENSP00000499665.1:p.Leu511Val | |
| ENST00000668208.1:n.1499C>G | ||
| ENST00000668499.1:c.*1253C>G | ENSP00000499626.1:n.*1253C>G | |
| ENST00000668949.1:c.1369C>G | ENSP00000499711.1:p.Leu457Val | |
| ENST00000671093.1:n.1463C>G | ||
| ENST00000673413.1:c.*1200C>G | ENSP00000500600.1:n.*1200C>G | |
| ENST00000332509.7:c.1531C>G | ENSP00000333142.3:p.Leu511Val | |
| ENST00000335539.7:c.1369C>G | ENSP00000335149.3:p.Leu457Val | |
| ENST00000402064.5:c.1369C>G | ENSP00000386100.1:p.Leu457Val | |
| ENST00000448094.5:c.*136C>G | ENSP00000407106.1:n.*136C>G | |
| ENST00000454670.1:c.176C>G | ||
| ENST00000491986.1:n.542C>G | ||
| NM_001004426.1:c.1369C>G | NP_001004426.1:p.Leu457Val | |
| NM_001199562.1:c.1369C>G | NP_001186491.1:p.Leu457Val | |
| NM_003560.2:c.1531C>G | NP_003551.2:p.Leu511Val | |
| XM_005261764.1:c.1531C>G | XP_005261821.1:p.Leu511Val | |
| XM_005261765.1:c.1531C>G | XP_005261822.1:p.Leu511Val | |
| XM_005261766.1:c.1531C>G | XP_005261823.1:p.Leu511Val | |
| XM_006724332.2:c.1531C>G | XP_006724395.1:p.Leu511Val | |
| XM_011530422.1:c.1426C>G | XP_011528724.1:p.Leu476Val | |
| XM_011530423.1:c.997C>G | XP_011528725.1:p.Leu333Val | |
| XM_011530424.1:c.997C>G | XP_011528726.1:p.Leu333Val | |
| XM_011530425.1:c.997C>G | XP_011528727.1:p.Leu333Val | |
| XM_011530426.1:c.1531C>G | XP_011528728.1:p.Leu511Val | |
| XR_244390.1:n.1639C>G | ||
| XR_244392.1:n.1692C>G | ||
| XR_430411.1:n.1691C>G | ||
| XR_430412.1:n.1744C>G | ||
| XR_937937.1:n.1639C>G | ||
| XR_937938.1:n.1639C>G | ||
| XR_937939.1:n.1691C>G | ||
| XR_937940.1:n.1691C>G | ||
| NM_001004426.2:c.1369C>G | NP_001004426.1:p.Leu457Val | |
| NM_001199562.2:c.1369C>G | NP_001186491.1:p.Leu457Val | |
| NM_001349864.1:c.1531C>G | NP_001336793.1:p.Leu511Val | |
| NM_001349865.1:c.1369C>G | NP_001336794.1:p.Leu457Val | |
| NM_001349866.1:c.1369C>G | NP_001336795.1:p.Leu457Val | |
| NM_001349867.1:c.997C>G | NP_001336796.1:p.Leu333Val | |
| NM_001349868.1:c.853C>G | NP_001336797.1:p.Leu285Val | |
| NM_001349869.1:c.835C>G | NP_001336798.1:p.Leu279Val | |
| NM_003560.3:c.1531C>G | NP_003551.2:p.Leu511Val | |
| XM_005261764.3:c.1531C>G | XP_005261821.1:p.Leu511Val | |
| XM_005261765.2:c.1531C>G | XP_005261822.1:p.Leu511Val | |
| XM_006724332.4:c.1531C>G | XP_006724395.1:p.Leu511Val | |
| XM_011530426.3:c.1531C>G | XP_011528728.1:p.Leu511Val | |
| XM_017028983.1:c.835C>G | XP_016884472.1:p.Leu279Val | |
| XM_017028986.2:c.1369C>G | XP_016884475.1:p.Leu457Val | |
| XM_017028987.2:c.*136C>G | XP_016884476.1:n.*136C>G | |
| XM_017028988.2:c.*144C>G | XP_016884477.1:n.*144C>G | |
| XM_024452280.1:c.997C>G | XP_024308048.1:p.Leu333Val | |
| XM_024452281.1:c.997C>G | XP_024308049.1:p.Leu333Val | |
| XM_024452282.1:c.997C>G | XP_024308050.1:p.Leu333Val | |
| XM_024452283.1:c.853C>G | XP_024308051.1:p.Leu285Val | |
| XM_024452284.1:c.835C>G | XP_024308052.1:p.Leu279Val | |
| XM_024452285.1:c.835C>G | XP_024308053.1:p.Leu279Val | |
| XR_001755325.2:n.1623C>G | ||
| XR_001755327.2:n.1623C>G | ||
| XR_001755328.2:n.1675C>G | ||
| XR_244390.3:n.1623C>G | ||
| XR_937938.3:n.1623C>G | ||
| XR_937939.3:n.1675C>G | ||
| XR_937940.3:n.1675C>G | ||
| NM_001199562.3:c.1369C>G | NP_001186491.1:p.Leu457Val | |
| NM_001349864.2:c.1531C>G | NP_001336793.1:p.Leu511Val | |
| NM_001349865.2:c.1369C>G | NP_001336794.1:p.Leu457Val | |
| NM_001349866.2:c.1369C>G | NP_001336795.1:p.Leu457Val | |
| NM_001349867.2:c.997C>G | NP_001336796.1:p.Leu333Val | |
| NM_001349868.2:c.853C>G | NP_001336797.1:p.Leu285Val | |
| NM_001349869.2:c.835C>G | NP_001336798.1:p.Leu279Val | |
| NM_003560.4:c.1531C>G MANE Select | NP_003551.2:p.Leu511Val | |
| NM_001004426.3:c.1369C>G | NP_001004426.1:p.Leu457Val |