Linked Data
ClinVar Variation Id:
134730
dbSNP Id:
rs3782356
ExAC:
12:49420078 C / T
gnomAD v2:
12-49420078-C-T
gnomAD v3:
12-49026295-C-T
gnomAD v4:
12-49026295-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49026295C>T , CM000674.2:g.49026295C>T | GRCh38 |
| NC_000012.11:g.49420078C>T , CM000674.1:g.49420078C>T | GRCh37 |
| NC_000012.10:g.47706345C>T | NCBI36 |
| NG_027827.1:g.34030G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683543.2:c.15671G>A | ENSP00000506726.1:p.Arg5224His | |
| ENST00000683863.1:n.151G>A | ||
| ENST00000684428.1:c.206G>A | ENSP00000507433.1:p.Arg69His | |
| ENST00000684755.1:n.206G>A | ||
| ENST00000685024.1:c.796G>A | ||
| ENST00000685166.1:c.15680G>A | ENSP00000509386.1:p.Arg5227His | |
| ENST00000688411.1:c.262-1349G>A | ENSP00000510146.1:n.262-1349G>A | |
| ENST00000691463.1:c.1057G>A | ENSP00000510624.1:n.1057G>A | |
| ENST00000692637.1:c.15668G>A | ENSP00000509666.1:p.Arg5223His | |
| ENST00000301067.12:c.15671G>A MANE Select | ENSP00000301067.7:p.Arg5224His | |
| ENST00000301067.11:c.15671G>A | ENSP00000301067.7:p.Arg5224His | |
| NM_003482.3:c.15671G>A | NP_003473.3:p.Arg5224His | |
| XM_005269162.3:c.15671G>A | XP_005269219.1:p.Arg5224His | |
| XM_006719614.2:c.15680G>A | XP_006719677.1:p.Arg5227His | |
| XM_006719616.2:c.15668G>A | XP_006719679.1:p.Arg5223His | |
| XM_011538770.1:c.15680G>A | XP_011537072.1:p.Arg5227His | |
| XM_011538771.1:c.15677G>A | XP_011537073.1:p.Arg5226His | |
| XM_011538772.1:c.15671G>A | XP_011537074.1:p.Arg5224His | |
| XM_011538773.1:c.15668G>A | XP_011537075.1:p.Arg5223His | |
| XM_011538774.1:c.15659G>A | XP_011537076.1:p.Arg5220His | |
| XM_011538775.1:c.15614G>A | XP_011537077.1:p.Arg5205His | |
| XM_011538776.1:c.15587G>A | XP_011537078.1:p.Arg5196His | |
| XR_944740.1:n.16973-1349G>A | ||
| XM_005269162.4:c.15671G>A | XP_005269219.1:p.Arg5224His | |
| XM_006719614.4:c.15680G>A | XP_006719677.1:p.Arg5227His | |
| XM_006719616.3:c.15668G>A | XP_006719679.1:p.Arg5223His | |
| XM_011538770.2:c.15680G>A | XP_011537072.1:p.Arg5227His | |
| XM_011538771.2:c.15677G>A | XP_011537073.1:p.Arg5226His | |
| XM_011538772.2:c.15671G>A | XP_011537074.1:p.Arg5224His | |
| XM_011538773.2:c.15668G>A | XP_011537075.1:p.Arg5223His | |
| XM_011538774.2:c.15659G>A | XP_011537076.1:p.Arg5220His | |
| XM_011538776.2:c.15587G>A | XP_011537078.1:p.Arg5196His | |
| XR_001748874.1:n.15962-1349G>A | ||
| NM_003482.4:c.15671G>A MANE Select | NP_003473.3:p.Arg5224His |