Linked Data
ClinVar Variation Id:
1579742
ClinVar RCV Id:
RCV002093388
dbSNP Id:
rs761120845
ExAC:
10:21185875 C / A
gnomAD v2:
10-21185875-C-A
gnomAD v4:
10-20896946-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.20896946C>A , CM000672.2:g.20896946C>A | GRCh38 |
| NC_000010.10:g.21185875C>A , CM000672.1:g.21185875C>A | GRCh37 |
| NC_000010.9:g.21225881C>A | NCBI36 |
| NG_017092.1:g.282242G>T , LRG_411:g.282242G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377122.9:c.153+12G>T MANE Select | ENSP00000366326.4:n.153+12G>T | |
| ENST00000674540.1:n.440+12G>T | ||
| ENST00000675114.1:n.565+64726G>T | ||
| ENST00000675700.1:n.380+64726G>T | ||
| ENST00000675702.1:n.636+64726G>T | ||
| ENST00000675747.1:n.2515+12G>T | ||
| ENST00000377119.5:n.163+12G>T | ||
| ENST00000377122.8:c.153+12G>T | ENSP00000366326.4:n.153+12G>T | |
| ENST00000417816.2:c.357+64726G>T | ENSP00000393896.2:n.357+64726G>T | |
| ENST00000434381.1:c.105+12G>T | ENSP00000396512.1:n.105+12G>T | |
| NM_001173484.1:c.357+64726G>T | NP_001166955.1:n.357+64726G>T | |
| NM_006393.2:c.153+12G>T , LRG_411t2:c.153+12G>T | NP_006384.1:n.153+12G>T | |
| NM_213569.2:c.357+64726G>T , LRG_411t1:c.357+64726G>T | NP_998734.1:n.357+64726G>T | |
| XM_005252342.3:c.153+12G>T | XP_005252399.1:n.153+12G>T | |
| XM_005252343.3:c.153+12G>T | XP_005252400.1:n.153+12G>T | |
| XM_005252344.3:c.153+12G>T | XP_005252401.1:n.153+12G>T | |
| XM_011519290.1:c.105+12G>T | XP_011517592.1:n.105+12G>T | |
| XM_011519291.1:c.105+12G>T | XP_011517593.1:n.105+12G>T | |
| XR_242691.3:n.265+12G>T | ||
| XM_005252342.5:c.153+12G>T | XP_005252399.1:n.153+12G>T | |
| XM_005252343.5:c.153+12G>T | XP_005252400.1:n.153+12G>T | |
| XM_005252344.5:c.153+12G>T | XP_005252401.1:n.153+12G>T | |
| XM_011519291.2:c.105+12G>T | XP_011517593.1:n.105+12G>T | |
| XM_017015468.1:c.105+12G>T | XP_016870957.1:n.105+12G>T | |
| XR_001746995.2:n.1749+12G>T | ||
| XR_001746996.1:n.468+12G>T | ||
| XR_242691.5:n.1749+12G>T | ||
| NM_001173484.2:c.357+64726G>T | NP_001166955.1:n.357+64726G>T | |
| NM_001377322.1:c.357+64726G>T | NP_001364251.1:n.357+64726G>T | |
| NM_001377323.1:c.309+64726G>T | NP_001364252.1:n.309+64726G>T | |
| NM_001377324.1:c.300+64726G>T | NP_001364253.1:n.300+64726G>T | |
| NM_001377325.1:c.291+64726G>T | NP_001364254.1:n.291+64726G>T | |
| NM_001377326.1:c.249+64726G>T | NP_001364255.1:n.249+64726G>T | |
| NM_001377327.1:c.249+64726G>T | NP_001364256.1:n.249+64726G>T | |
| NM_001377328.1:c.249+64726G>T | NP_001364257.1:n.249+64726G>T | |
| NM_006393.3:c.153+12G>T MANE Select | NP_006384.1:n.153+12G>T |