Linked Data
ClinVar Variation Id:
198500
dbSNP Id:
rs200683924
ExAC:
2:86067277 C / A
gnomAD v2:
2-86067277-C-A
gnomAD v3:
2-85840154-C-A
gnomAD v4:
2-85840154-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85840154C>A , CM000664.2:g.85840154C>A | GRCh38 |
| NC_000002.11:g.86067277C>A , CM000664.1:g.86067277C>A | GRCh37 |
| NC_000002.10:g.85920788C>A | NCBI36 |
| NG_012807.1:g.53881G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377332.8:c.1127G>T | ENSP00000366549.4:p.Arg376Leu | |
| ENST00000393805.6:c.1163G>T | ENSP00000377394.1:p.Arg388Leu | |
| ENST00000393808.8:c.1178G>T | ENSP00000377397.3:p.Arg393Leu | |
| ENST00000638178.1:c.1004G>T | ENSP00000492103.1:p.Arg335Leu | |
| ENST00000638227.1:c.*1290G>T | ENSP00000492602.1:n.*1290G>T | |
| ENST00000638288.1:c.*1411G>T | ENSP00000491699.1:n.*1411G>T | |
| ENST00000638321.1:c.1182G>T | ||
| ENST00000638484.1:c.*1467G>T | ENSP00000492635.1:n.*1467G>T | |
| ENST00000638523.1:c.1902G>T | ||
| ENST00000638542.1:c.*707G>T | ENSP00000492468.1:n.*707G>T | |
| ENST00000638572.2:c.1247G>T MANE Select | ENSP00000491316.1:p.Arg416Leu | |
| ENST00000638581.1:n.1114G>T | ||
| ENST00000638659.1:c.1313G>T | ||
| ENST00000638678.1:c.1106G>T | ||
| ENST00000638855.1:c.*685G>T | ENSP00000490979.1:n.*685G>T | |
| ENST00000638885.1:c.*1266G>T | ENSP00000492209.1:n.*1266G>T | |
| ENST00000638956.1:c.*1519G>T | ENSP00000492097.1:n.*1519G>T | |
| ENST00000638986.1:c.1163G>T | ENSP00000491853.1:p.Arg388Leu | |
| ENST00000639074.1:n.3520G>T | ||
| ENST00000639119.1:c.1088G>T | ENSP00000492045.1:p.Arg363Leu | |
| ENST00000639184.1:c.*1411G>T | ENSP00000492305.1:n.*1411G>T | |
| ENST00000639216.1:n.1130G>T | ||
| ENST00000639305.1:c.1212G>T | ||
| ENST00000639311.1:c.*1037G>T | ENSP00000491398.1:n.*1037G>T | |
| ENST00000639432.1:c.1163G>T | ENSP00000491828.1:p.Arg388Leu | |
| ENST00000639472.1:n.2097G>T | ||
| ENST00000639541.1:c.*1603G>T | ENSP00000492280.1:n.*1603G>T | |
| ENST00000639608.1:c.*1085G>T | ENSP00000492473.1:n.*1085G>T | |
| ENST00000639743.1:n.4958G>T | ||
| ENST00000639820.1:c.*1681G>T | ENSP00000491802.1:n.*1681G>T | |
| ENST00000639867.1:n.3654G>T | ||
| ENST00000639945.1:c.*1163G>T | ENSP00000492866.1:n.*1163G>T | |
| ENST00000639981.1:c.1388G>T | ||
| ENST00000640024.1:c.*1411G>T | ENSP00000491238.1:n.*1411G>T | |
| ENST00000640222.1:c.1400G>T | ||
| ENST00000640295.1:c.1452G>T | ENSP00000491027.1:n.1452G>T | |
| ENST00000640314.1:c.1257G>T | ENSP00000491315.1:n.1257G>T | |
| ENST00000640315.1:c.925G>T | ENSP00000492089.1:n.925G>T | |
| ENST00000640322.1:c.1163G>T | ENSP00000491564.1:p.Arg388Leu | |
| ENST00000640378.1:c.1402G>T | ENSP00000492030.1:n.1402G>T | |
| ENST00000640418.1:c.1304G>T | ENSP00000492098.1:p.Arg435Leu | |
| ENST00000640425.1:c.1411G>T | ||
| ENST00000640453.1:n.2764G>T | ||
| ENST00000640572.1:c.1280G>T | ||
| ENST00000640594.1:c.*944G>T | ENSP00000491356.1:n.*944G>T | |
| ENST00000640712.1:n.3595G>T | ||
| ENST00000640763.1:c.3618G>T | ||
| ENST00000640798.1:n.3043G>T | ||
| ENST00000640835.1:c.960G>T | ||
| ENST00000640903.1:c.1514G>T | ||
| ENST00000640982.1:c.1163G>T | ENSP00000492299.1:p.Arg388Leu | |
| ENST00000640992.1:c.1163G>T | ENSP00000492753.1:p.Arg388Leu | |
| ENST00000377332.7:c.1247G>T | ENSP00000366549.3:p.Arg416Leu | |
| ENST00000393805.5:c.1163G>T | ENSP00000377394.1:p.Arg388Leu | |
| ENST00000393808.7:c.1178G>T | ENSP00000377397.3:p.Arg393Leu | |
| ENST00000461206.1:n.2482G>T | ||
| NM_001042437.1:c.1178G>T | NP_001035902.1:p.Arg393Leu | |
| NM_003896.3:c.1247G>T | NP_003887.3:p.Arg416Leu | |
| XM_005264630.3:c.1088G>T | XP_005264687.1:p.Arg363Leu | |
| XM_011533143.1:c.863G>T | XP_011531445.1:p.Arg288Leu | |
| NM_001354223.1:c.863G>T | NP_001341152.1:p.Arg288Leu | |
| NM_001354224.1:c.863G>T | NP_001341153.1:p.Arg288Leu | |
| NM_001354226.1:c.863G>T | NP_001341155.1:p.Arg288Leu | |
| NM_001354227.1:c.1163G>T | NP_001341156.1:p.Arg388Leu | |
| NM_001354229.1:c.1163G>T | NP_001341158.1:p.Arg388Leu | |
| NM_001354233.1:c.863G>T | NP_001341162.1:p.Arg288Leu | |
| NM_001354234.1:c.863G>T | NP_001341163.1:p.Arg288Leu | |
| NM_001354238.1:c.1163G>T | NP_001341167.1:p.Arg388Leu | |
| NM_001354247.1:c.524G>T | NP_001341176.1:p.Arg175Leu | |
| NM_001354248.1:c.863G>T | NP_001341177.1:p.Arg288Leu | |
| NM_001363847.1:c.1088G>T | NP_001350776.1:p.Arg363Leu | |
| XM_017005202.2:c.1004G>T | XP_016860691.1:p.Arg335Leu | |
| XM_017005203.2:c.863G>T | XP_016860692.1:p.Arg288Leu | |
| XM_017005204.2:c.863G>T | XP_016860693.1:p.Arg288Leu | |
| XM_017005205.2:c.863G>T | XP_016860694.1:p.Arg288Leu | |
| XM_017005206.2:c.863G>T | XP_016860695.1:p.Arg288Leu | |
| XM_017005208.2:c.863G>T | XP_016860697.1:p.Arg288Leu | |
| XM_017005209.1:c.863G>T | XP_016860698.1:p.Arg288Leu | |
| XM_017005212.2:c.863G>T | XP_016860701.1:p.Arg288Leu | |
| XM_017005213.2:c.863G>T | XP_016860702.1:p.Arg288Leu | |
| XM_017005214.2:c.704G>T | XP_016860703.1:p.Arg235Leu | |
| XR_001739019.1:n.1513G>T | ||
| XR_001739020.1:n.2004G>T | ||
| XR_001739021.1:n.2362G>T | ||
| NM_003896.4:c.1247G>T MANE Select | NP_003887.3:p.Arg416Leu | |
| NM_001042437.2:c.1178G>T | NP_001035902.1:p.Arg393Leu | |
| NM_001354223.2:c.863G>T | NP_001341152.1:p.Arg288Leu | |
| NM_001354224.2:c.863G>T | NP_001341153.1:p.Arg288Leu | |
| NM_001354226.2:c.863G>T | NP_001341155.1:p.Arg288Leu | |
| NM_001354227.2:c.1163G>T | NP_001341156.1:p.Arg388Leu | |
| NM_001354229.2:c.1163G>T | NP_001341158.1:p.Arg388Leu | |
| NM_001354233.2:c.863G>T | NP_001341162.1:p.Arg288Leu |