Linked Data
ClinVar Variation Id:
289695
dbSNP Id:
rs186670730
ExAC:
12:49421574 C / T
gnomAD v2:
12-49421574-C-T
gnomAD v3:
12-49027791-C-T
gnomAD v4:
12-49027791-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49027791C>T , CM000674.2:g.49027791C>T | GRCh38 |
| NC_000012.11:g.49421574C>T , CM000674.1:g.49421574C>T | GRCh37 |
| NC_000012.10:g.47707841C>T | NCBI36 |
| NG_027827.1:g.32534G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.14643+12G>A | ENSP00000506726.1:n.14643+12G>A | |
| ENST00000685166.1:c.14652+12G>A | ENSP00000509386.1:n.14652+12G>A | |
| ENST00000686151.1:n.218+12G>A | ||
| ENST00000688411.1:c.261+12G>A | ENSP00000510146.1:n.261+12G>A | |
| ENST00000691463.1:c.261+12G>A | ENSP00000510624.1:n.261+12G>A | |
| ENST00000692637.1:c.14640+12G>A | ENSP00000509666.1:n.14640+12G>A | |
| ENST00000301067.12:c.14643+12G>A MANE Select | ENSP00000301067.7:n.14643+12G>A | |
| ENST00000301067.11:c.14643+12G>A | ENSP00000301067.7:n.14643+12G>A | |
| NM_003482.3:c.14643+12G>A | NP_003473.3:n.14643+12G>A | |
| XM_005269162.3:c.14643+12G>A | XP_005269219.1:n.14643+12G>A | |
| XM_006719614.2:c.14652+12G>A | XP_006719677.1:n.14652+12G>A | |
| XM_006719616.2:c.14640+12G>A | XP_006719679.1:n.14640+12G>A | |
| XM_011538770.1:c.14652+12G>A | XP_011537072.1:n.14652+12G>A | |
| XM_011538771.1:c.14649+12G>A | XP_011537073.1:n.14649+12G>A | |
| XM_011538772.1:c.14643+12G>A | XP_011537074.1:n.14643+12G>A | |
| XM_011538773.1:c.14640+12G>A | XP_011537075.1:n.14640+12G>A | |
| XM_011538774.1:c.14631+12G>A | XP_011537076.1:n.14631+12G>A | |
| XM_011538775.1:c.14586+12G>A | XP_011537077.1:n.14586+12G>A | |
| XM_011538776.1:c.14559+12G>A | XP_011537078.1:n.14559+12G>A | |
| XR_944740.1:n.16972+12G>A | ||
| XM_005269162.4:c.14643+12G>A | XP_005269219.1:n.14643+12G>A | |
| XM_006719614.4:c.14652+12G>A | XP_006719677.1:n.14652+12G>A | |
| XM_006719616.3:c.14640+12G>A | XP_006719679.1:n.14640+12G>A | |
| XM_011538770.2:c.14652+12G>A | XP_011537072.1:n.14652+12G>A | |
| XM_011538771.2:c.14649+12G>A | XP_011537073.1:n.14649+12G>A | |
| XM_011538772.2:c.14643+12G>A | XP_011537074.1:n.14643+12G>A | |
| XM_011538773.2:c.14640+12G>A | XP_011537075.1:n.14640+12G>A | |
| XM_011538774.2:c.14631+12G>A | XP_011537076.1:n.14631+12G>A | |
| XM_011538776.2:c.14559+12G>A | XP_011537078.1:n.14559+12G>A | |
| XR_001748874.1:n.15961+12G>A | ||
| NM_003482.4:c.14643+12G>A MANE Select | NP_003473.3:n.14643+12G>A |