Linked Data
ClinVar Variation Id:
158720
dbSNP Id:
rs180784366
ExAC:
12:49426602 T / C
gnomAD v2:
12-49426602-T-C
gnomAD v3:
12-49032819-T-C
gnomAD v4:
12-49032819-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49032819T>C , CM000674.2:g.49032819T>C | GRCh38 |
| NC_000012.11:g.49426602T>C , CM000674.1:g.49426602T>C | GRCh37 |
| NC_000012.10:g.47712869T>C | NCBI36 |
| NG_027827.1:g.27506A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.11886A>G | ENSP00000506726.1:p.Gln3962= | |
| ENST00000685166.1:c.11895A>G | ENSP00000509386.1:p.Gln3965= | |
| ENST00000685554.1:c.1446A>G | ENSP00000508640.1:p.Gln482= | |
| ENST00000687201.1:c.3465A>G | ENSP00000510037.1:p.Gln1155= | |
| ENST00000692637.1:c.11883A>G | ENSP00000509666.1:p.Gln3961= | |
| ENST00000692841.1:c.3365A>G | ENSP00000508711.1:n.3365A>G | |
| ENST00000301067.12:c.11886A>G MANE Select | ENSP00000301067.7:p.Gln3962= | |
| ENST00000301067.11:c.11886A>G | ENSP00000301067.7:p.Gln3962= | |
| NM_003482.3:c.11886A>G | NP_003473.3:p.Gln3962= | |
| XM_005269162.3:c.11886A>G | XP_005269219.1:p.Gln3962= | |
| XM_006719614.2:c.11895A>G | XP_006719677.1:p.Gln3965= | |
| XM_006719616.2:c.11883A>G | XP_006719679.1:p.Gln3961= | |
| XM_011538770.1:c.11895A>G | XP_011537072.1:p.Gln3965= | |
| XM_011538771.1:c.11892A>G | XP_011537073.1:p.Gln3964= | |
| XM_011538772.1:c.11886A>G | XP_011537074.1:p.Gln3962= | |
| XM_011538773.1:c.11883A>G | XP_011537075.1:p.Gln3961= | |
| XM_011538774.1:c.11874A>G | XP_011537076.1:p.Gln3958= | |
| XM_011538775.1:c.11895A>G | XP_011537077.1:p.Gln3965= | |
| XM_011538776.1:c.11802A>G | XP_011537078.1:p.Gln3934= | |
| XR_944740.1:n.14215A>G | ||
| XM_005269162.4:c.11886A>G | XP_005269219.1:p.Gln3962= | |
| XM_006719614.4:c.11895A>G | XP_006719677.1:p.Gln3965= | |
| XM_006719616.3:c.11883A>G | XP_006719679.1:p.Gln3961= | |
| XM_011538770.2:c.11895A>G | XP_011537072.1:p.Gln3965= | |
| XM_011538771.2:c.11892A>G | XP_011537073.1:p.Gln3964= | |
| XM_011538772.2:c.11886A>G | XP_011537074.1:p.Gln3962= | |
| XM_011538773.2:c.11883A>G | XP_011537075.1:p.Gln3961= | |
| XM_011538774.2:c.11874A>G | XP_011537076.1:p.Gln3958= | |
| XM_011538776.2:c.11802A>G | XP_011537078.1:p.Gln3934= | |
| XR_001748874.1:n.13204A>G | ||
| NM_003482.4:c.11886A>G MANE Select | NP_003473.3:p.Gln3962= |