Linked Data
ClinVar Variation Id:
130381
dbSNP Id:
rs149801673
ExAC:
2:86067465 G / A
gnomAD v2:
2-86067465-G-A
gnomAD v3:
2-85840342-G-A
gnomAD v4:
2-85840342-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85840342G>A , CM000664.2:g.85840342G>A | GRCh38 |
| NC_000002.11:g.86067465G>A , CM000664.1:g.86067465G>A | GRCh37 |
| NC_000002.10:g.85920976G>A | NCBI36 |
| NG_012807.1:g.53693C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377332.8:c.939C>T | ENSP00000366549.4:p.Cys313= | |
| ENST00000393805.6:c.975C>T | ENSP00000377394.1:p.Cys325= | |
| ENST00000393808.8:c.990C>T | ENSP00000377397.3:p.Cys330= | |
| ENST00000638178.1:c.816C>T | ENSP00000492103.1:p.Cys272= | |
| ENST00000638227.1:c.*1102C>T | ENSP00000492602.1:n.*1102C>T | |
| ENST00000638288.1:c.*1223C>T | ENSP00000491699.1:n.*1223C>T | |
| ENST00000638321.1:c.994C>T | ||
| ENST00000638484.1:c.*1279C>T | ENSP00000492635.1:n.*1279C>T | |
| ENST00000638523.1:c.1714C>T | ||
| ENST00000638542.1:c.*519C>T | ENSP00000492468.1:n.*519C>T | |
| ENST00000638572.2:c.1059C>T MANE Select | ENSP00000491316.1:p.Cys353= | |
| ENST00000638581.1:n.926C>T | ||
| ENST00000638659.1:c.1125C>T | ||
| ENST00000638678.1:c.918C>T | ||
| ENST00000638855.1:c.*497C>T | ENSP00000490979.1:n.*497C>T | |
| ENST00000638885.1:c.*1078C>T | ENSP00000492209.1:n.*1078C>T | |
| ENST00000638956.1:c.*1331C>T | ENSP00000492097.1:n.*1331C>T | |
| ENST00000638986.1:c.975C>T | ENSP00000491853.1:p.Cys325= | |
| ENST00000639074.1:n.3332C>T | ||
| ENST00000639119.1:c.900C>T | ENSP00000492045.1:p.Cys300= | |
| ENST00000639184.1:c.*1223C>T | ENSP00000492305.1:n.*1223C>T | |
| ENST00000639216.1:n.942C>T | ||
| ENST00000639305.1:c.1024C>T | ||
| ENST00000639311.1:c.*849C>T | ENSP00000491398.1:n.*849C>T | |
| ENST00000639432.1:c.975C>T | ENSP00000491828.1:p.Cys325= | |
| ENST00000639472.1:n.1909C>T | ||
| ENST00000639541.1:c.*1415C>T | ENSP00000492280.1:n.*1415C>T | |
| ENST00000639608.1:c.*897C>T | ENSP00000492473.1:n.*897C>T | |
| ENST00000639743.1:n.4770C>T | ||
| ENST00000639820.1:c.*1493C>T | ENSP00000491802.1:n.*1493C>T | |
| ENST00000639867.1:n.3466C>T | ||
| ENST00000639945.1:c.*975C>T | ENSP00000492866.1:n.*975C>T | |
| ENST00000639981.1:c.1200C>T | ||
| ENST00000640024.1:c.*1223C>T | ENSP00000491238.1:n.*1223C>T | |
| ENST00000640222.1:c.1212C>T | ||
| ENST00000640295.1:c.1264C>T | ENSP00000491027.1:n.1264C>T | |
| ENST00000640314.1:c.1069C>T | ENSP00000491315.1:n.1069C>T | |
| ENST00000640315.1:c.737C>T | ENSP00000492089.1:n.737C>T | |
| ENST00000640322.1:c.975C>T | ENSP00000491564.1:p.Cys325= | |
| ENST00000640378.1:c.1214C>T | ENSP00000492030.1:n.1214C>T | |
| ENST00000640418.1:c.1116C>T | ENSP00000492098.1:p.Cys372= | |
| ENST00000640425.1:c.1223C>T | ||
| ENST00000640453.1:n.2576C>T | ||
| ENST00000640572.1:c.1092C>T | ||
| ENST00000640594.1:c.*756C>T | ENSP00000491356.1:n.*756C>T | |
| ENST00000640712.1:n.3407C>T | ||
| ENST00000640763.1:c.3430C>T | ||
| ENST00000640798.1:n.2855C>T | ||
| ENST00000640835.1:c.772C>T | ||
| ENST00000640903.1:c.1326C>T | ||
| ENST00000640982.1:c.975C>T | ENSP00000492299.1:p.Cys325= | |
| ENST00000640992.1:c.975C>T | ENSP00000492753.1:p.Cys325= | |
| ENST00000377332.7:c.1059C>T | ENSP00000366549.3:p.Cys353= | |
| ENST00000393805.5:c.975C>T | ENSP00000377394.1:p.Cys325= | |
| ENST00000393808.7:c.990C>T | ENSP00000377397.3:p.Cys330= | |
| ENST00000461206.1:n.2294C>T | ||
| NM_001042437.1:c.990C>T | NP_001035902.1:p.Cys330= | |
| NM_003896.3:c.1059C>T | NP_003887.3:p.Cys353= | |
| XM_005264630.3:c.900C>T | XP_005264687.1:p.Cys300= | |
| XM_011533143.1:c.675C>T | XP_011531445.1:p.Cys225= | |
| NM_001354223.1:c.675C>T | NP_001341152.1:p.Cys225= | |
| NM_001354224.1:c.675C>T | NP_001341153.1:p.Cys225= | |
| NM_001354226.1:c.675C>T | NP_001341155.1:p.Cys225= | |
| NM_001354227.1:c.975C>T | NP_001341156.1:p.Cys325= | |
| NM_001354229.1:c.975C>T | NP_001341158.1:p.Cys325= | |
| NM_001354233.1:c.675C>T | NP_001341162.1:p.Cys225= | |
| NM_001354234.1:c.675C>T | NP_001341163.1:p.Cys225= | |
| NM_001354238.1:c.975C>T | NP_001341167.1:p.Cys325= | |
| NM_001354247.1:c.336C>T | NP_001341176.1:p.Cys112= | |
| NM_001354248.1:c.675C>T | NP_001341177.1:p.Cys225= | |
| NM_001363847.1:c.900C>T | NP_001350776.1:p.Cys300= | |
| XM_017005202.2:c.816C>T | XP_016860691.1:p.Cys272= | |
| XM_017005203.2:c.675C>T | XP_016860692.1:p.Cys225= | |
| XM_017005204.2:c.675C>T | XP_016860693.1:p.Cys225= | |
| XM_017005205.2:c.675C>T | XP_016860694.1:p.Cys225= | |
| XM_017005206.2:c.675C>T | XP_016860695.1:p.Cys225= | |
| XM_017005208.2:c.675C>T | XP_016860697.1:p.Cys225= | |
| XM_017005209.1:c.675C>T | XP_016860698.1:p.Cys225= | |
| XM_017005212.2:c.675C>T | XP_016860701.1:p.Cys225= | |
| XM_017005213.2:c.675C>T | XP_016860702.1:p.Cys225= | |
| XM_017005214.2:c.516C>T | XP_016860703.1:p.Cys172= | |
| XR_001739019.1:n.1325C>T | ||
| XR_001739020.1:n.1816C>T | ||
| XR_001739021.1:n.2174C>T | ||
| NM_003896.4:c.1059C>T MANE Select | NP_003887.3:p.Cys353= | |
| NM_001042437.2:c.990C>T | NP_001035902.1:p.Cys330= | |
| NM_001354223.2:c.675C>T | NP_001341152.1:p.Cys225= | |
| NM_001354224.2:c.675C>T | NP_001341153.1:p.Cys225= | |
| NM_001354226.2:c.675C>T | NP_001341155.1:p.Cys225= | |
| NM_001354227.2:c.975C>T | NP_001341156.1:p.Cys325= | |
| NM_001354229.2:c.975C>T | NP_001341158.1:p.Cys325= | |
| NM_001354233.2:c.675C>T | NP_001341162.1:p.Cys225= |