Linked Data
ClinVar Variation Id:
337333
ClinVar RCV Id:
RCV000292884
dbSNP Id:
rs886056391
gnomAD v2:
2-86067198-T-C
gnomAD v3:
2-85840075-T-C
gnomAD v4:
2-85840075-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85840075T>C , CM000664.2:g.85840075T>C | GRCh38 |
| NC_000002.11:g.86067198T>C , CM000664.1:g.86067198T>C | GRCh37 |
| NC_000002.10:g.85920709T>C | NCBI36 |
| NG_012807.1:g.53960A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377332.8:c.*69A>G | ENSP00000366549.4:n.*69A>G | |
| ENST00000393805.6:c.*69A>G | ENSP00000377394.1:n.*69A>G | |
| ENST00000393808.8:c.*69A>G | ENSP00000377397.3:n.*69A>G | |
| ENST00000638178.1:c.*69A>G | ENSP00000492103.1:n.*69A>G | |
| ENST00000638227.1:c.*1369A>G | ENSP00000492602.1:n.*1369A>G | |
| ENST00000638288.1:c.*1490A>G | ENSP00000491699.1:n.*1490A>G | |
| ENST00000638321.1:c.1261A>G | ||
| ENST00000638484.1:c.*1546A>G | ENSP00000492635.1:n.*1546A>G | |
| ENST00000638523.1:c.1981A>G | ||
| ENST00000638542.1:c.*786A>G | ENSP00000492468.1:n.*786A>G | |
| ENST00000638572.2:c.*69A>G MANE Select | ENSP00000491316.1:n.*69A>G | |
| ENST00000638581.1:n.1193A>G | ||
| ENST00000638659.1:c.1392A>G | ||
| ENST00000638678.1:c.1185A>G | ||
| ENST00000638855.1:c.*764A>G | ENSP00000490979.1:n.*764A>G | |
| ENST00000638885.1:c.*1345A>G | ENSP00000492209.1:n.*1345A>G | |
| ENST00000638956.1:c.*1598A>G | ENSP00000492097.1:n.*1598A>G | |
| ENST00000638986.1:c.*69A>G | ENSP00000491853.1:n.*69A>G | |
| ENST00000639074.1:n.3599A>G | ||
| ENST00000639119.1:c.*69A>G | ENSP00000492045.1:n.*69A>G | |
| ENST00000639184.1:c.*1490A>G | ENSP00000492305.1:n.*1490A>G | |
| ENST00000639216.1:n.1209A>G | ||
| ENST00000639305.1:c.1291A>G | ||
| ENST00000639311.1:c.*1116A>G | ENSP00000491398.1:n.*1116A>G | |
| ENST00000639432.1:c.*69A>G | ENSP00000491828.1:n.*69A>G | |
| ENST00000639472.1:n.2176A>G | ||
| ENST00000639541.1:c.*1682A>G | ENSP00000492280.1:n.*1682A>G | |
| ENST00000639608.1:c.*1164A>G | ENSP00000492473.1:n.*1164A>G | |
| ENST00000639743.1:n.5037A>G | ||
| ENST00000639820.1:c.*1760A>G | ENSP00000491802.1:n.*1760A>G | |
| ENST00000639867.1:n.3733A>G | ||
| ENST00000639945.1:c.*1242A>G | ENSP00000492866.1:n.*1242A>G | |
| ENST00000639981.1:c.1467A>G | ||
| ENST00000640024.1:c.*1490A>G | ENSP00000491238.1:n.*1490A>G | |
| ENST00000640222.1:c.1479A>G | ||
| ENST00000640295.1:c.1531A>G | ENSP00000491027.1:n.1531A>G | |
| ENST00000640314.1:c.1336A>G | ENSP00000491315.1:n.1336A>G | |
| ENST00000640315.1:c.1004A>G | ENSP00000492089.1:n.1004A>G | |
| ENST00000640322.1:c.*69A>G | ENSP00000491564.1:n.*69A>G | |
| ENST00000640378.1:c.1481A>G | ENSP00000492030.1:n.1481A>G | |
| ENST00000640418.1:c.*69A>G | ENSP00000492098.1:n.*69A>G | |
| ENST00000640425.1:c.1490A>G | ||
| ENST00000640453.1:n.2843A>G | ||
| ENST00000640572.1:c.1359A>G | ||
| ENST00000640594.1:c.*1023A>G | ENSP00000491356.1:n.*1023A>G | |
| ENST00000640712.1:n.3674A>G | ||
| ENST00000640763.1:c.3697A>G | ||
| ENST00000640798.1:n.3122A>G | ||
| ENST00000640835.1:c.1039A>G | ||
| ENST00000640903.1:c.1593A>G | ||
| ENST00000640982.1:c.*69A>G | ENSP00000492299.1:n.*69A>G | |
| ENST00000640992.1:c.*69A>G | ENSP00000492753.1:n.*69A>G | |
| ENST00000377332.7:c.*69A>G | ENSP00000366549.3:n.*69A>G | |
| ENST00000393805.5:c.*69A>G | ENSP00000377394.1:n.*69A>G | |
| ENST00000393808.7:c.*69A>G | ENSP00000377397.3:n.*69A>G | |
| ENST00000461206.1:n.2561A>G | ||
| NM_001042437.1:c.*69A>G | NP_001035902.1:n.*69A>G | |
| NM_003896.3:c.*69A>G | NP_003887.3:n.*69A>G | |
| XM_005264630.3:c.*69A>G | XP_005264687.1:n.*69A>G | |
| XM_011533143.1:c.*69A>G | XP_011531445.1:n.*69A>G | |
| NM_001354223.1:c.*69A>G | NP_001341152.1:n.*69A>G | |
| NM_001354224.1:c.*69A>G | NP_001341153.1:n.*69A>G | |
| NM_001354226.1:c.*69A>G | NP_001341155.1:n.*69A>G | |
| NM_001354227.1:c.*69A>G | NP_001341156.1:n.*69A>G | |
| NM_001354229.1:c.*69A>G | NP_001341158.1:n.*69A>G | |
| NM_001354233.1:c.*69A>G | NP_001341162.1:n.*69A>G | |
| NM_001354234.1:c.*69A>G | NP_001341163.1:n.*69A>G | |
| NM_001354238.1:c.*69A>G | NP_001341167.1:n.*69A>G | |
| NM_001354247.1:c.*69A>G | NP_001341176.1:n.*69A>G | |
| NM_001354248.1:c.*69A>G | NP_001341177.1:n.*69A>G | |
| NM_001363847.1:c.*69A>G | NP_001350776.1:n.*69A>G | |
| XM_017005202.2:c.*69A>G | XP_016860691.1:n.*69A>G | |
| XM_017005203.2:c.*69A>G | XP_016860692.1:n.*69A>G | |
| XM_017005204.2:c.*69A>G | XP_016860693.1:n.*69A>G | |
| XM_017005205.2:c.*69A>G | XP_016860694.1:n.*69A>G | |
| XM_017005206.2:c.*69A>G | XP_016860695.1:n.*69A>G | |
| XM_017005208.2:c.*69A>G | XP_016860697.1:n.*69A>G | |
| XM_017005209.1:c.*69A>G | XP_016860698.1:n.*69A>G | |
| XM_017005212.2:c.*69A>G | XP_016860701.1:n.*69A>G | |
| XM_017005213.2:c.*69A>G | XP_016860702.1:n.*69A>G | |
| XM_017005214.2:c.*69A>G | XP_016860703.1:n.*69A>G | |
| XR_001739019.1:n.1592A>G | ||
| XR_001739020.1:n.2083A>G | ||
| XR_001739021.1:n.2441A>G | ||
| NM_003896.4:c.*69A>G MANE Select | NP_003887.3:n.*69A>G | |
| NM_001042437.2:c.*69A>G | NP_001035902.1:n.*69A>G | |
| NM_001354223.2:c.*69A>G | NP_001341152.1:n.*69A>G | |
| NM_001354224.2:c.*69A>G | NP_001341153.1:n.*69A>G | |
| NM_001354226.2:c.*69A>G | NP_001341155.1:n.*69A>G | |
| NM_001354227.2:c.*69A>G | NP_001341156.1:n.*69A>G | |
| NM_001354229.2:c.*69A>G | NP_001341158.1:n.*69A>G | |
| NM_001354233.2:c.*69A>G | NP_001341162.1:n.*69A>G |