Linked Data
ClinVar Variation Id:
337326
ClinVar RCV Id:
RCV000380039
dbSNP Id:
rs112372963
gnomAD v2:
2-86066852-A-G
gnomAD v3:
2-85839729-A-G
gnomAD v4:
2-85839729-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85839729A>G , CM000664.2:g.85839729A>G | GRCh38 |
| NC_000002.11:g.86066852A>G , CM000664.1:g.86066852A>G | GRCh37 |
| NC_000002.10:g.85920363A>G | NCBI36 |
| NG_012807.1:g.54306T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377332.8:c.*415T>C | ENSP00000366549.4:n.*415T>C | |
| ENST00000393805.6:c.*415T>C | ENSP00000377394.1:n.*415T>C | |
| ENST00000393808.8:c.*415T>C | ENSP00000377397.3:n.*415T>C | |
| ENST00000638178.1:c.*415T>C | ENSP00000492103.1:n.*415T>C | |
| ENST00000638227.1:c.*1715T>C | ENSP00000492602.1:n.*1715T>C | |
| ENST00000638288.1:c.*1836T>C | ENSP00000491699.1:n.*1836T>C | |
| ENST00000638321.1:c.1607T>C | ||
| ENST00000638484.1:c.*1892T>C | ENSP00000492635.1:n.*1892T>C | |
| ENST00000638542.1:c.*1132T>C | ENSP00000492468.1:n.*1132T>C | |
| ENST00000638572.2:c.*415T>C MANE Select | ENSP00000491316.1:n.*415T>C | |
| ENST00000638659.1:c.1738T>C | ||
| ENST00000638678.1:c.1531T>C | ||
| ENST00000638855.1:c.*1110T>C | ENSP00000490979.1:n.*1110T>C | |
| ENST00000638885.1:c.*1691T>C | ENSP00000492209.1:n.*1691T>C | |
| ENST00000638956.1:c.*1944T>C | ENSP00000492097.1:n.*1944T>C | |
| ENST00000638986.1:c.*415T>C | ENSP00000491853.1:n.*415T>C | |
| ENST00000639074.1:n.3945T>C | ||
| ENST00000639119.1:c.*415T>C | ENSP00000492045.1:n.*415T>C | |
| ENST00000639184.1:c.*1836T>C | ENSP00000492305.1:n.*1836T>C | |
| ENST00000639216.1:n.1555T>C | ||
| ENST00000639305.1:c.1637T>C | ||
| ENST00000639311.1:c.*1462T>C | ENSP00000491398.1:n.*1462T>C | |
| ENST00000639432.1:c.*415T>C | ENSP00000491828.1:n.*415T>C | |
| ENST00000639472.1:n.2522T>C | ||
| ENST00000639541.1:c.*2028T>C | ENSP00000492280.1:n.*2028T>C | |
| ENST00000639608.1:c.*1510T>C | ENSP00000492473.1:n.*1510T>C | |
| ENST00000639743.1:n.5383T>C | ||
| ENST00000639820.1:c.*2106T>C | ENSP00000491802.1:n.*2106T>C | |
| ENST00000639867.1:n.4079T>C | ||
| ENST00000639945.1:c.*1588T>C | ENSP00000492866.1:n.*1588T>C | |
| ENST00000639981.1:c.1813T>C | ||
| ENST00000640024.1:c.*1836T>C | ENSP00000491238.1:n.*1836T>C | |
| ENST00000640222.1:c.1825T>C | ||
| ENST00000640295.1:c.1877T>C | ENSP00000491027.1:n.1877T>C | |
| ENST00000640314.1:c.1682T>C | ENSP00000491315.1:n.1682T>C | |
| ENST00000640315.1:c.1350T>C | ENSP00000492089.1:n.1350T>C | |
| ENST00000640322.1:c.*415T>C | ENSP00000491564.1:n.*415T>C | |
| ENST00000640378.1:c.1827T>C | ENSP00000492030.1:n.1827T>C | |
| ENST00000640418.1:c.*415T>C | ENSP00000492098.1:n.*415T>C | |
| ENST00000640425.1:c.1836T>C | ||
| ENST00000640453.1:n.3189T>C | ||
| ENST00000640572.1:c.1705T>C | ||
| ENST00000640594.1:c.*1369T>C | ENSP00000491356.1:n.*1369T>C | |
| ENST00000640712.1:n.4020T>C | ||
| ENST00000640763.1:c.4043T>C | ||
| ENST00000640798.1:n.3468T>C | ||
| ENST00000640903.1:c.1939T>C | ||
| ENST00000640982.1:c.*415T>C | ENSP00000492299.1:n.*415T>C | |
| ENST00000640992.1:c.*415T>C | ENSP00000492753.1:n.*415T>C | |
| ENST00000377332.7:c.*415T>C | ENSP00000366549.3:n.*415T>C | |
| ENST00000393805.5:c.*415T>C | ENSP00000377394.1:n.*415T>C | |
| ENST00000393808.7:c.*415T>C | ENSP00000377397.3:n.*415T>C | |
| ENST00000461206.1:n.2907T>C | ||
| NM_001042437.1:c.*415T>C | NP_001035902.1:n.*415T>C | |
| NM_003896.3:c.*415T>C | NP_003887.3:n.*415T>C | |
| XM_005264630.3:c.*415T>C | XP_005264687.1:n.*415T>C | |
| XM_011533143.1:c.*415T>C | XP_011531445.1:n.*415T>C | |
| NM_001354223.1:c.*415T>C | NP_001341152.1:n.*415T>C | |
| NM_001354224.1:c.*415T>C | NP_001341153.1:n.*415T>C | |
| NM_001354226.1:c.*415T>C | NP_001341155.1:n.*415T>C | |
| NM_001354227.1:c.*415T>C | NP_001341156.1:n.*415T>C | |
| NM_001354229.1:c.*415T>C | NP_001341158.1:n.*415T>C | |
| NM_001354233.1:c.*415T>C | NP_001341162.1:n.*415T>C | |
| NM_001354234.1:c.*415T>C | NP_001341163.1:n.*415T>C | |
| NM_001354238.1:c.*415T>C | NP_001341167.1:n.*415T>C | |
| NM_001354247.1:c.*415T>C | NP_001341176.1:n.*415T>C | |
| NM_001354248.1:c.*415T>C | NP_001341177.1:n.*415T>C | |
| NM_001363847.1:c.*415T>C | NP_001350776.1:n.*415T>C | |
| XM_017005202.2:c.*415T>C | XP_016860691.1:n.*415T>C | |
| XM_017005203.2:c.*415T>C | XP_016860692.1:n.*415T>C | |
| XM_017005204.2:c.*415T>C | XP_016860693.1:n.*415T>C | |
| XM_017005205.2:c.*415T>C | XP_016860694.1:n.*415T>C | |
| XM_017005206.2:c.*415T>C | XP_016860695.1:n.*415T>C | |
| XM_017005208.2:c.*415T>C | XP_016860697.1:n.*415T>C | |
| XM_017005209.1:c.*415T>C | XP_016860698.1:n.*415T>C | |
| XM_017005212.2:c.*415T>C | XP_016860701.1:n.*415T>C | |
| XM_017005213.2:c.*415T>C | XP_016860702.1:n.*415T>C | |
| XM_017005214.2:c.*415T>C | XP_016860703.1:n.*415T>C | |
| XR_001739019.1:n.1938T>C | ||
| XR_001739020.1:n.2429T>C | ||
| XR_001739021.1:n.2787T>C | ||
| NM_003896.4:c.*415T>C MANE Select | NP_003887.3:n.*415T>C | |
| NM_001042437.2:c.*415T>C | NP_001035902.1:n.*415T>C | |
| NM_001354223.2:c.*415T>C | NP_001341152.1:n.*415T>C | |
| NM_001354224.2:c.*415T>C | NP_001341153.1:n.*415T>C | |
| NM_001354226.2:c.*415T>C | NP_001341155.1:n.*415T>C | |
| NM_001354227.2:c.*415T>C | NP_001341156.1:n.*415T>C | |
| NM_001354229.2:c.*415T>C | NP_001341158.1:n.*415T>C | |
| NM_001354233.2:c.*415T>C | NP_001341162.1:n.*415T>C |