Linked Data
ClinVar Variation Id:
2995533
ClinVar RCV Id:
RCV003853620
dbSNP Id:
rs754363205
ExAC:
12:49436108 C / T
gnomAD v2:
12-49436108-C-T
gnomAD v3:
12-49042325-C-T
gnomAD v4:
12-49042325-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49042325C>T , CM000674.2:g.49042325C>T | GRCh38 |
| NC_000012.11:g.49436108C>T , CM000674.1:g.49436108C>T | GRCh37 |
| NC_000012.10:g.47722375C>T | NCBI36 |
| NG_027827.1:g.18000G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650290.2:c.680-16G>A | ||
| ENST00000683543.2:c.5873G>A | ENSP00000506726.1:p.Arg1958His | |
| ENST00000685166.1:c.5882G>A | ENSP00000509386.1:p.Arg1961His | |
| ENST00000692637.1:c.5870G>A | ENSP00000509666.1:p.Arg1957His | |
| ENST00000301067.12:c.5873G>A MANE Select | ENSP00000301067.7:p.Arg1958His | |
| ENST00000301067.11:c.5873G>A | ENSP00000301067.7:p.Arg1958His | |
| NM_003482.3:c.5873G>A | NP_003473.3:p.Arg1958His | |
| XM_005269162.3:c.5873G>A | XP_005269219.1:p.Arg1958His | |
| XM_006719614.2:c.5882G>A | XP_006719677.1:p.Arg1961His | |
| XM_006719616.2:c.5870G>A | XP_006719679.1:p.Arg1957His | |
| XM_011538770.1:c.5882G>A | XP_011537072.1:p.Arg1961His | |
| XM_011538771.1:c.5879G>A | XP_011537073.1:p.Arg1960His | |
| XM_011538772.1:c.5873G>A | XP_011537074.1:p.Arg1958His | |
| XM_011538773.1:c.5870G>A | XP_011537075.1:p.Arg1957His | |
| XM_011538774.1:c.5877-16G>A | XP_011537076.1:n.5877-16G>A | |
| XM_011538775.1:c.5882G>A | XP_011537077.1:p.Arg1961His | |
| XM_011538776.1:c.5882G>A | XP_011537078.1:p.Arg1961His | |
| XR_944740.1:n.8202G>A | ||
| XM_005269162.4:c.5873G>A | XP_005269219.1:p.Arg1958His | |
| XM_006719614.4:c.5882G>A | XP_006719677.1:p.Arg1961His | |
| XM_006719616.3:c.5870G>A | XP_006719679.1:p.Arg1957His | |
| XM_011538770.2:c.5882G>A | XP_011537072.1:p.Arg1961His | |
| XM_011538771.2:c.5879G>A | XP_011537073.1:p.Arg1960His | |
| XM_011538772.2:c.5873G>A | XP_011537074.1:p.Arg1958His | |
| XM_011538773.2:c.5870G>A | XP_011537075.1:p.Arg1957His | |
| XM_011538774.2:c.5877-16G>A | XP_011537076.1:n.5877-16G>A | |
| XM_011538776.2:c.5882G>A | XP_011537078.1:p.Arg1961His | |
| XR_001748874.1:n.7191G>A | ||
| NM_003482.4:c.5873G>A MANE Select | NP_003473.3:p.Arg1958His |