Linked Data
ClinVar Variation Id:
134731
dbSNP Id:
rs201481646
ExAC:
12:49418717 C / T
gnomAD v2:
12-49418717-C-T
gnomAD v3:
12-49024934-C-T
gnomAD v4:
12-49024934-C-T
COSMIC:
COSM5945785
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49024934C>T , CM000674.2:g.49024934C>T | GRCh38 |
| NC_000012.11:g.49418717C>T , CM000674.1:g.49418717C>T | GRCh37 |
| NC_000012.10:g.47704984C>T | NCBI36 |
| NG_027827.1:g.35391G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681974.1:n.469G>A | ||
| ENST00000683543.2:c.15797G>A | ENSP00000506726.1:p.Arg5266His | |
| ENST00000683863.1:n.1512G>A | ||
| ENST00000684428.1:c.332G>A | ENSP00000507433.1:p.Arg111His | |
| ENST00000684755.1:n.332G>A | ||
| ENST00000685024.1:c.922G>A | ||
| ENST00000685166.1:c.15806G>A | ENSP00000509386.1:p.Arg5269His | |
| ENST00000688411.1:c.274G>A | ENSP00000510146.1:p.Ala92Thr | |
| ENST00000691463.1:c.1183G>A | ENSP00000510624.1:n.1183G>A | |
| ENST00000692637.1:c.15794G>A | ENSP00000509666.1:p.Arg5265His | |
| ENST00000301067.12:c.15797G>A MANE Select | ENSP00000301067.7:p.Arg5266His | |
| ENST00000301067.11:c.15797G>A | ENSP00000301067.7:p.Arg5266His | |
| NM_003482.3:c.15797G>A | NP_003473.3:p.Arg5266His | |
| XM_005269162.3:c.15797G>A | XP_005269219.1:p.Arg5266His | |
| XM_006719614.2:c.15806G>A | XP_006719677.1:p.Arg5269His | |
| XM_006719616.2:c.15794G>A | XP_006719679.1:p.Arg5265His | |
| XM_011538770.1:c.15806G>A | XP_011537072.1:p.Arg5269His | |
| XM_011538771.1:c.15803G>A | XP_011537073.1:p.Arg5268His | |
| XM_011538772.1:c.15797G>A | XP_011537074.1:p.Arg5266His | |
| XM_011538773.1:c.15794G>A | XP_011537075.1:p.Arg5265His | |
| XM_011538774.1:c.15785G>A | XP_011537076.1:p.Arg5262His | |
| XM_011538775.1:c.15740G>A | XP_011537077.1:p.Arg5247His | |
| XM_011538776.1:c.15713G>A | XP_011537078.1:p.Arg5238His | |
| XR_944740.1:n.16985G>A | ||
| XM_005269162.4:c.15797G>A | XP_005269219.1:p.Arg5266His | |
| XM_006719614.4:c.15806G>A | XP_006719677.1:p.Arg5269His | |
| XM_006719616.3:c.15794G>A | XP_006719679.1:p.Arg5265His | |
| XM_011538770.2:c.15806G>A | XP_011537072.1:p.Arg5269His | |
| XM_011538771.2:c.15803G>A | XP_011537073.1:p.Arg5268His | |
| XM_011538772.2:c.15797G>A | XP_011537074.1:p.Arg5266His | |
| XM_011538773.2:c.15794G>A | XP_011537075.1:p.Arg5265His | |
| XM_011538774.2:c.15785G>A | XP_011537076.1:p.Arg5262His | |
| XM_011538776.2:c.15713G>A | XP_011537078.1:p.Arg5238His | |
| XR_001748874.1:n.15974G>A | ||
| NM_003482.4:c.15797G>A MANE Select | NP_003473.3:p.Arg5266His |