Linked Data
ClinVar Variation Id:
1508410
ClinVar RCV Id:
RCV002016084
dbSNP Id:
rs555842651
ExAC:
12:49425708 T / C
gnomAD v2:
12-49425708-T-C
gnomAD v3:
12-49031925-T-C
gnomAD v4:
12-49031925-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49031925T>C , CM000674.2:g.49031925T>C | GRCh38 |
| NC_000012.11:g.49425708T>C , CM000674.1:g.49425708T>C | GRCh37 |
| NC_000012.10:g.47711975T>C | NCBI36 |
| NG_027827.1:g.28400A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.12780A>G | ENSP00000506726.1:p.Gln4260= | |
| ENST00000685166.1:c.12789A>G | ENSP00000509386.1:p.Gln4263= | |
| ENST00000685554.1:c.1752+588A>G | ENSP00000508640.1:n.1752+588A>G | |
| ENST00000692637.1:c.12777A>G | ENSP00000509666.1:p.Gln4259= | |
| ENST00000692841.1:c.4259A>G | ENSP00000508711.1:n.4259A>G | |
| ENST00000301067.12:c.12780A>G MANE Select | ENSP00000301067.7:p.Gln4260= | |
| ENST00000301067.11:c.12780A>G | ENSP00000301067.7:p.Gln4260= | |
| NM_003482.3:c.12780A>G | NP_003473.3:p.Gln4260= | |
| XM_005269162.3:c.12780A>G | XP_005269219.1:p.Gln4260= | |
| XM_006719614.2:c.12789A>G | XP_006719677.1:p.Gln4263= | |
| XM_006719616.2:c.12777A>G | XP_006719679.1:p.Gln4259= | |
| XM_011538770.1:c.12789A>G | XP_011537072.1:p.Gln4263= | |
| XM_011538771.1:c.12786A>G | XP_011537073.1:p.Gln4262= | |
| XM_011538772.1:c.12780A>G | XP_011537074.1:p.Gln4260= | |
| XM_011538773.1:c.12777A>G | XP_011537075.1:p.Gln4259= | |
| XM_011538774.1:c.12768A>G | XP_011537076.1:p.Gln4256= | |
| XM_011538775.1:c.12789A>G | XP_011537077.1:p.Gln4263= | |
| XM_011538776.1:c.12696A>G | XP_011537078.1:p.Gln4232= | |
| XR_944740.1:n.15109A>G | ||
| XM_005269162.4:c.12780A>G | XP_005269219.1:p.Gln4260= | |
| XM_006719614.4:c.12789A>G | XP_006719677.1:p.Gln4263= | |
| XM_006719616.3:c.12777A>G | XP_006719679.1:p.Gln4259= | |
| XM_011538770.2:c.12789A>G | XP_011537072.1:p.Gln4263= | |
| XM_011538771.2:c.12786A>G | XP_011537073.1:p.Gln4262= | |
| XM_011538772.2:c.12780A>G | XP_011537074.1:p.Gln4260= | |
| XM_011538773.2:c.12777A>G | XP_011537075.1:p.Gln4259= | |
| XM_011538774.2:c.12768A>G | XP_011537076.1:p.Gln4256= | |
| XM_011538776.2:c.12696A>G | XP_011537078.1:p.Gln4232= | |
| XR_001748874.1:n.14098A>G | ||
| NM_003482.4:c.12780A>G MANE Select | NP_003473.3:p.Gln4260= |