Linked Data
ClinVar Variation Id:
337319
ClinVar RCV Id:
RCV000313630
dbSNP Id:
rs761892496
gnomAD v3:
2-85839200-G-A
gnomAD v4:
2-85839200-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85839200G>A , CM000664.2:g.85839200G>A | GRCh38 |
| NC_000002.11:g.86066323G>A , CM000664.1:g.86066323G>A | GRCh37 |
| NC_000002.10:g.85919834G>A | NCBI36 |
| NG_012807.1:g.54835C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377332.8:c.*944C>T | ENSP00000366549.4:n.*944C>T | |
| ENST00000393805.6:c.*944C>T | ENSP00000377394.1:n.*944C>T | |
| ENST00000393808.8:c.*944C>T | ENSP00000377397.3:n.*944C>T | |
| ENST00000638227.1:c.*2244C>T | ENSP00000492602.1:n.*2244C>T | |
| ENST00000638321.1:c.2136C>T | ||
| ENST00000638484.1:c.*2421C>T | ENSP00000492635.1:n.*2421C>T | |
| ENST00000638542.1:c.*1661C>T | ENSP00000492468.1:n.*1661C>T | |
| ENST00000638572.2:c.*944C>T MANE Select | ENSP00000491316.1:n.*944C>T | |
| ENST00000638659.1:c.2267C>T | ||
| ENST00000638678.1:c.2060C>T | ||
| ENST00000638885.1:c.*2220C>T | ENSP00000492209.1:n.*2220C>T | |
| ENST00000639074.1:n.4474C>T | ||
| ENST00000639119.1:c.*944C>T | ENSP00000492045.1:n.*944C>T | |
| ENST00000639184.1:c.*2365C>T | ENSP00000492305.1:n.*2365C>T | |
| ENST00000639311.1:c.*1991C>T | ENSP00000491398.1:n.*1991C>T | |
| ENST00000639432.1:c.*944C>T | ENSP00000491828.1:n.*944C>T | |
| ENST00000639472.1:n.3051C>T | ||
| ENST00000639743.1:n.5912C>T | ||
| ENST00000639820.1:c.*2635C>T | ENSP00000491802.1:n.*2635C>T | |
| ENST00000639867.1:n.4608C>T | ||
| ENST00000640024.1:c.*2365C>T | ENSP00000491238.1:n.*2365C>T | |
| ENST00000640222.1:c.2354C>T | ||
| ENST00000640295.1:c.2406C>T | ENSP00000491027.1:n.2406C>T | |
| ENST00000640315.1:c.1879C>T | ENSP00000492089.1:n.1879C>T | |
| ENST00000640322.1:c.*944C>T | ENSP00000491564.1:n.*944C>T | |
| ENST00000640378.1:c.2356C>T | ENSP00000492030.1:n.2356C>T | |
| ENST00000640418.1:c.*944C>T | ENSP00000492098.1:n.*944C>T | |
| ENST00000640425.1:c.2365C>T | ||
| ENST00000640453.1:n.3718C>T | ||
| ENST00000640594.1:c.*1898C>T | ENSP00000491356.1:n.*1898C>T | |
| ENST00000640712.1:n.4549C>T | ||
| ENST00000640763.1:c.4572C>T | ||
| ENST00000640798.1:n.3997C>T | ||
| ENST00000640982.1:c.*944C>T | ENSP00000492299.1:n.*944C>T | |
| ENST00000640992.1:c.*944C>T | ENSP00000492753.1:n.*944C>T | |
| ENST00000377332.7:c.*944C>T | ENSP00000366549.3:n.*944C>T | |
| ENST00000393805.5:c.*944C>T | ENSP00000377394.1:n.*944C>T | |
| ENST00000393808.7:c.*944C>T | ENSP00000377397.3:n.*944C>T | |
| ENST00000461206.1:n.3436C>T | ||
| NM_001042437.1:c.*944C>T | NP_001035902.1:n.*944C>T | |
| NM_003896.3:c.*944C>T | NP_003887.3:n.*944C>T | |
| XM_005264630.3:c.*944C>T | XP_005264687.1:n.*944C>T | |
| XM_011533143.1:c.*944C>T | XP_011531445.1:n.*944C>T | |
| NM_001354223.1:c.*944C>T | NP_001341152.1:n.*944C>T | |
| NM_001354224.1:c.*944C>T | NP_001341153.1:n.*944C>T | |
| NM_001354226.1:c.*944C>T | NP_001341155.1:n.*944C>T | |
| NM_001354227.1:c.*944C>T | NP_001341156.1:n.*944C>T | |
| NM_001354229.1:c.*944C>T | NP_001341158.1:n.*944C>T | |
| NM_001354233.1:c.*944C>T | NP_001341162.1:n.*944C>T | |
| NM_001354234.1:c.*944C>T | NP_001341163.1:n.*944C>T | |
| NM_001354238.1:c.*944C>T | NP_001341167.1:n.*944C>T | |
| NM_001354247.1:c.*944C>T | NP_001341176.1:n.*944C>T | |
| NM_001354248.1:c.*944C>T | NP_001341177.1:n.*944C>T | |
| NM_001363847.1:c.*944C>T | NP_001350776.1:n.*944C>T | |
| XM_017005202.2:c.*944C>T | XP_016860691.1:n.*944C>T | |
| XM_017005203.2:c.*944C>T | XP_016860692.1:n.*944C>T | |
| XM_017005204.2:c.*944C>T | XP_016860693.1:n.*944C>T | |
| XM_017005205.2:c.*944C>T | XP_016860694.1:n.*944C>T | |
| XM_017005206.2:c.*944C>T | XP_016860695.1:n.*944C>T | |
| XM_017005208.2:c.*944C>T | XP_016860697.1:n.*944C>T | |
| XM_017005209.1:c.*944C>T | XP_016860698.1:n.*944C>T | |
| XM_017005212.2:c.*944C>T | XP_016860701.1:n.*944C>T | |
| XM_017005213.2:c.*944C>T | XP_016860702.1:n.*944C>T | |
| XM_017005214.2:c.*944C>T | XP_016860703.1:n.*944C>T | |
| XR_001739019.1:n.2467C>T | ||
| XR_001739020.1:n.2958C>T | ||
| XR_001739021.1:n.3316C>T | ||
| NM_003896.4:c.*944C>T MANE Select | NP_003887.3:n.*944C>T | |
| NM_001042437.2:c.*944C>T | NP_001035902.1:n.*944C>T | |
| NM_001354223.2:c.*944C>T | NP_001341152.1:n.*944C>T | |
| NM_001354224.2:c.*944C>T | NP_001341153.1:n.*944C>T | |
| NM_001354226.2:c.*944C>T | NP_001341155.1:n.*944C>T | |
| NM_001354227.2:c.*944C>T | NP_001341156.1:n.*944C>T | |
| NM_001354229.2:c.*944C>T | NP_001341158.1:n.*944C>T | |
| NM_001354233.2:c.*944C>T | NP_001341162.1:n.*944C>T |