Linked Data
ClinVar Variation Id:
1341485
ClinVar RCV Id:
RCV003318405
dbSNP Id:
rs72552754
ExAC:
6:32008262 G / A
gnomAD v2:
6-32008262-G-A
gnomAD v3:
6-32040485-G-A
gnomAD v4:
6-32040485-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040485G>A , CM000668.2:g.32040485G>A | GRCh38 |
| NC_000006.11:g.32008262G>A , CM000668.1:g.32008262G>A | GRCh37 |
| NC_000006.10:g.32116241G>A | NCBI36 |
| NG_007941.2:g.7178G>A | |
| NG_008337.2:g.73890C>T | |
| NG_007941.3:g.7181G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.1019G>A MANE Select | ENSP00000496625.1:p.Arg340His | |
| ENST00000418967.6:c.1019G>A | ENSP00000408860.2:p.Arg340His | |
| ENST00000435122.3:c.929G>A | ENSP00000415043.2:p.Arg310His | |
| ENST00000479074.5:n.1077G>A | ||
| ENST00000479730.5:n.1135G>A | ||
| ENST00000483041.5:n.1188G>A | ||
| ENST00000486063.5:n.998G>A | ||
| NM_000500.7:c.1019G>A | NP_000491.4:p.Arg340His | |
| NM_001128590.3:c.929G>A | NP_001122062.3:p.Arg310His | |
| XM_011514314.1:c.614G>A | XP_011512616.1:p.Arg205His | |
| NM_000500.9:c.1019G>A MANE Select | NP_000491.4:p.Arg340His | |
| NM_001368143.1:c.614G>A | NP_001355072.1:p.Arg205His | |
| NM_001368144.1:c.614G>A | NP_001355073.1:p.Arg205His | |
| NM_001128590.4:c.929G>A | NP_001122062.3:p.Arg310His | |
| NM_001368143.2:c.614G>A | NP_001355072.1:p.Arg205His | |
| NM_001368144.2:c.614G>A | NP_001355073.1:p.Arg205His |