Linked Data
ClinVar Variation Id:
288966
dbSNP Id:
rs779139301
ExAC:
12:49415659 A / C
gnomAD v2:
12-49415659-A-C
gnomAD v3:
12-49021876-A-C
gnomAD v4:
12-49021876-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49021876A>C , CM000674.2:g.49021876A>C | GRCh38 |
| NC_000012.11:g.49415659A>C , CM000674.1:g.49415659A>C | GRCh37 |
| NC_000012.10:g.47701926A>C | NCBI36 |
| NG_027827.1:g.38449T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526209.2:c.492-4T>G | ||
| ENST00000681974.1:n.1194-4T>G | ||
| ENST00000682693.1:n.2156-4T>G | ||
| ENST00000682886.1:n.928-4T>G | ||
| ENST00000683543.2:c.16570-4T>G | ENSP00000506726.1:n.16570-4T>G | |
| ENST00000683988.1:c.493-4T>G | ENSP00000506939.1:n.493-4T>G | |
| ENST00000684428.1:c.1281T>G | ENSP00000507433.1:n.1281T>G | |
| ENST00000685024.1:c.1676-4T>G | ||
| ENST00000685166.1:c.16531-4T>G | ENSP00000509386.1:n.16531-4T>G | |
| ENST00000691932.1:c.523-4T>G | ENSP00000509037.1:n.523-4T>G | |
| ENST00000692637.1:c.16519-4T>G | ENSP00000509666.1:n.16519-4T>G | |
| ENST00000301067.12:c.16522-4T>G MANE Select | ENSP00000301067.7:n.16522-4T>G | |
| ENST00000301067.11:c.16522-4T>G | ENSP00000301067.7:n.16522-4T>G | |
| ENST00000526209.1:c.565-4T>G | ENSP00000435714.1:n.565-4T>G | |
| NM_003482.3:c.16522-4T>G | NP_003473.3:n.16522-4T>G | |
| XM_005269162.3:c.16522-4T>G | XP_005269219.1:n.16522-4T>G | |
| XM_006719614.2:c.16531-4T>G | XP_006719677.1:n.16531-4T>G | |
| XM_006719616.2:c.16519-4T>G | XP_006719679.1:n.16519-4T>G | |
| XM_011538770.1:c.16579-4T>G | XP_011537072.1:n.16579-4T>G | |
| XM_011538771.1:c.16576-4T>G | XP_011537073.1:n.16576-4T>G | |
| XM_011538772.1:c.16570-4T>G | XP_011537074.1:n.16570-4T>G | |
| XM_011538773.1:c.16567-4T>G | XP_011537075.1:n.16567-4T>G | |
| XM_011538774.1:c.16558-4T>G | XP_011537076.1:n.16558-4T>G | |
| XM_011538775.1:c.16513-4T>G | XP_011537077.1:n.16513-4T>G | |
| XM_011538776.1:c.16486-4T>G | XP_011537078.1:n.16486-4T>G | |
| XM_005269162.4:c.16522-4T>G | XP_005269219.1:n.16522-4T>G | |
| XM_006719614.4:c.16531-4T>G | XP_006719677.1:n.16531-4T>G | |
| XM_006719616.3:c.16519-4T>G | XP_006719679.1:n.16519-4T>G | |
| XM_011538770.2:c.16579-4T>G | XP_011537072.1:n.16579-4T>G | |
| XM_011538771.2:c.16576-4T>G | XP_011537073.1:n.16576-4T>G | |
| XM_011538772.2:c.16570-4T>G | XP_011537074.1:n.16570-4T>G | |
| XM_011538773.2:c.16567-4T>G | XP_011537075.1:n.16567-4T>G | |
| XM_011538774.2:c.16558-4T>G | XP_011537076.1:n.16558-4T>G | |
| XM_011538776.2:c.16486-4T>G | XP_011537078.1:n.16486-4T>G | |
| XR_001748874.1:n.16699-4T>G | ||
| NM_003482.4:c.16522-4T>G MANE Select | NP_003473.3:n.16522-4T>G |