Linked Data
ClinVar Variation Id:
134697
dbSNP Id:
rs201507971
ExAC:
12:49433848 C / T
gnomAD v2:
12-49433848-C-T
gnomAD v3:
12-49040065-C-T
gnomAD v4:
12-49040065-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49040065C>T , CM000674.2:g.49040065C>T | GRCh38 |
| NC_000012.11:g.49433848C>T , CM000674.1:g.49433848C>T | GRCh37 |
| NC_000012.10:g.47720115C>T | NCBI36 |
| NG_027827.1:g.20260G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.7705G>A | ENSP00000506726.1:p.Gly2569Ser | |
| ENST00000685166.1:c.7714G>A | ENSP00000509386.1:p.Gly2572Ser | |
| ENST00000689060.1:c.1724G>A | ||
| ENST00000689143.1:c.1378G>A | ENSP00000509839.1:p.Gly460Ser | |
| ENST00000689944.1:c.1814G>A | ||
| ENST00000692637.1:c.7702G>A | ENSP00000509666.1:p.Gly2568Ser | |
| ENST00000301067.12:c.7705G>A MANE Select | ENSP00000301067.7:p.Gly2569Ser | |
| ENST00000301067.11:c.7705G>A | ENSP00000301067.7:p.Gly2569Ser | |
| NM_003482.3:c.7705G>A | NP_003473.3:p.Gly2569Ser | |
| XM_005269162.3:c.7705G>A | XP_005269219.1:p.Gly2569Ser | |
| XM_006719614.2:c.7714G>A | XP_006719677.1:p.Gly2572Ser | |
| XM_006719616.2:c.7702G>A | XP_006719679.1:p.Gly2568Ser | |
| XM_011538770.1:c.7714G>A | XP_011537072.1:p.Gly2572Ser | |
| XM_011538771.1:c.7711G>A | XP_011537073.1:p.Gly2571Ser | |
| XM_011538772.1:c.7705G>A | XP_011537074.1:p.Gly2569Ser | |
| XM_011538773.1:c.7702G>A | XP_011537075.1:p.Gly2568Ser | |
| XM_011538774.1:c.7693G>A | XP_011537076.1:p.Gly2565Ser | |
| XM_011538775.1:c.7714G>A | XP_011537077.1:p.Gly2572Ser | |
| XM_011538776.1:c.7621G>A | XP_011537078.1:p.Gly2541Ser | |
| XR_944740.1:n.10034G>A | ||
| XM_005269162.4:c.7705G>A | XP_005269219.1:p.Gly2569Ser | |
| XM_006719614.4:c.7714G>A | XP_006719677.1:p.Gly2572Ser | |
| XM_006719616.3:c.7702G>A | XP_006719679.1:p.Gly2568Ser | |
| XM_011538770.2:c.7714G>A | XP_011537072.1:p.Gly2572Ser | |
| XM_011538771.2:c.7711G>A | XP_011537073.1:p.Gly2571Ser | |
| XM_011538772.2:c.7705G>A | XP_011537074.1:p.Gly2569Ser | |
| XM_011538773.2:c.7702G>A | XP_011537075.1:p.Gly2568Ser | |
| XM_011538774.2:c.7693G>A | XP_011537076.1:p.Gly2565Ser | |
| XM_011538776.2:c.7621G>A | XP_011537078.1:p.Gly2541Ser | |
| XR_001748874.1:n.9023G>A | ||
| NM_003482.4:c.7705G>A MANE Select | NP_003473.3:p.Gly2569Ser |