Linked Data
ClinVar Variation Id:
47231
ClinVar RCV Id:
RCV000040501
RCV000643663
RCV001085536
RCV001128880
RCV001128882
RCV001128879
RCV001128881
RCV001170110
RCV002345311
RCV001131552
dbSNP Id:
rs149668487
ExAC:
2:179640768 T / C
gnomAD v2:
2-179640768-T-C
gnomAD v3:
2-178776041-T-C
gnomAD v4:
2-178776041-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178776041T>C , CM000664.2:g.178776041T>C | GRCh38 |
| NC_000002.11:g.179640768T>C , CM000664.1:g.179640768T>C | GRCh37 |
| NC_000002.10:g.179349013T>C | NCBI36 |
| NG_011618.3:g.59762A>G , LRG_391:g.59762A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.5823A>G | ENSP00000343764.6:p.Arg1941= | |
| ENST00000342175.11:c.5685A>G | ENSP00000340554.6:p.Arg1895= | |
| ENST00000359218.10:c.5685A>G | ENSP00000352154.5:p.Arg1895= | |
| ENST00000360870.10:c.5823A>G MANE Plus Clinical | ENSP00000354117.4:p.Arg1941= | |
| ENST00000342175.10:c.5685A>G | ENSP00000340554.6:p.Arg1895= | |
| ENST00000342992.10:c.5823A>G | ENSP00000343764.6:p.Arg1941= | |
| ENST00000359218.9:c.5685A>G | ENSP00000352154.5:p.Arg1895= | |
| ENST00000360870.9:c.5823A>G | ENSP00000354117.4:p.Arg1941= | |
| ENST00000460472.6:c.5685A>G | ENSP00000434586.1:p.Arg1895= | |
| ENST00000589042.5:c.5823A>G MANE Select | ENSP00000467141.1:p.Arg1941= | |
| ENST00000591111.5:c.5823A>G | ENSP00000465570.1:p.Arg1941= | |
| ENST00000615779.4:c.5823A>G | ENSP00000483597.1:p.Arg1941= | |
| NM_001256850.1:c.5823A>G | NP_001243779.1:p.Arg1941= | |
| NM_001267550.2:c.5823A>G MANE Select | NP_001254479.2:p.Arg1941= | |
| NM_003319.4:c.5685A>G | NP_003310.4:p.Arg1895= | |
| NM_133378.4:c.5823A>G | NP_596869.4:p.Arg1941= | |
| NM_133379.4:c.5823A>G , LRG_391t2:c.5823A>G | NP_596870.2:p.Arg1941= | |
| NM_133432.3:c.5685A>G | NP_597676.3:p.Arg1895= | |
| NM_133437.4:c.5685A>G | NP_597681.4:p.Arg1895= | |
| XM_011511729.1:c.5871A>G | XP_011510031.1:p.Arg1957= | |
| XM_011511730.1:c.5871A>G | XP_011510032.1:p.Arg1957= | |
| XM_011511731.1:c.5730A>G | XP_011510033.1:p.Arg1910= | |
| XM_011511732.1:c.5868A>G | XP_011510034.1:p.Arg1956= | |
| XM_017004819.1:c.5826A>G | XP_016860308.1:p.Arg1942= | |
| XM_017004820.1:c.5826A>G | XP_016860309.1:p.Arg1942= | |
| XM_017004821.1:c.5823A>G | XP_016860310.1:p.Arg1941= | |
| XM_017004822.1:c.5826A>G | XP_016860311.1:p.Arg1942= | |
| XM_017004823.1:c.5826A>G | XP_016860312.1:p.Arg1942= | |
| XM_024453094.1:c.5826A>G | XP_024308862.1:p.Arg1942= | |
| XM_024453095.1:c.5826A>G | XP_024308863.1:p.Arg1942= | |
| XM_024453096.1:c.5826A>G | XP_024308864.1:p.Arg1942= | |
| XM_024453097.1:c.5826A>G | XP_024308865.1:p.Arg1942= | |
| XM_024453098.1:c.5826A>G | XP_024308866.1:p.Arg1942= | |
| XM_024453099.1:c.5826A>G | XP_024308867.1:p.Arg1942= | |
| NM_133379.5:c.5823A>G MANE Plus Clinical | NP_596870.2:p.Arg1941= |