Linked Data
ClinVar Variation Id:
242761
dbSNP Id:
rs1554299737
gnomAD v2:
6-32007584-T-A
gnomAD v3:
6-32039807-T-A
gnomAD v4:
6-32039807-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32039807T>A , CM000668.2:g.32039807T>A | GRCh38 |
| NC_000006.11:g.32007584T>A , CM000668.1:g.32007584T>A | GRCh37 |
| NC_000006.10:g.32115563T>A | NCBI36 |
| NG_007941.2:g.6500T>A | |
| NG_008337.2:g.74568A>T | |
| NG_007941.3:g.6503T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644719.2:c.710T>A MANE Select | ENSP00000496625.1:p.Ile237Asn | |
| ENST00000418967.6:c.710T>A | ENSP00000408860.2:p.Ile237Asn | |
| ENST00000435122.3:c.620T>A | ENSP00000415043.2:p.Ile207Asn | |
| ENST00000462278.1:n.399T>A | ||
| ENST00000466779.5:c.*402T>A | ENSP00000417321.1:n.*402T>A | |
| ENST00000466879.5:n.761T>A | ||
| ENST00000479074.5:n.768T>A | ||
| ENST00000479730.5:n.826T>A | ||
| ENST00000483041.5:n.879T>A | ||
| ENST00000486063.5:n.890T>A | ||
| NM_000500.7:c.710T>A | NP_000491.4:p.Ile237Asn | |
| NM_001128590.3:c.620T>A | NP_001122062.3:p.Ile207Asn | |
| XM_011514314.1:c.305T>A | XP_011512616.1:p.Ile102Asn | |
| NM_000500.9:c.710T>A MANE Select | NP_000491.4:p.Ile237Asn | |
| NM_001368143.1:c.305T>A | NP_001355072.1:p.Ile102Asn | |
| NM_001368144.1:c.305T>A | NP_001355073.1:p.Ile102Asn | |
| NM_001128590.4:c.620T>A | NP_001122062.3:p.Ile207Asn | |
| NM_001368143.2:c.305T>A | NP_001355072.1:p.Ile102Asn | |
| NM_001368144.2:c.305T>A | NP_001355073.1:p.Ile102Asn |