Linked Data
dbSNP Id:
rs769293380
ExAC:
6:32007541 G / T
gnomAD v2:
6-32007541-G-T
gnomAD v3:
6-32039764-G-T
gnomAD v4:
6-32039764-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32039764G>T , CM000668.2:g.32039764G>T | GRCh38 |
| NC_000006.11:g.32007541G>T , CM000668.1:g.32007541G>T | GRCh37 |
| NC_000006.10:g.32115520G>T | NCBI36 |
| NG_007941.2:g.6457G>T | |
| NG_008337.2:g.74611C>A | |
| NG_007941.3:g.6460G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.667G>T MANE Select | ENSP00000496625.1:p.Gly223Cys | |
| ENST00000418967.6:c.667G>T | ENSP00000408860.2:p.Gly223Cys | |
| ENST00000435122.3:c.577G>T | ENSP00000415043.2:p.Gly193Cys | |
| ENST00000462278.1:n.356G>T | ||
| ENST00000466779.5:c.*359G>T | ENSP00000417321.1:n.*359G>T | |
| ENST00000466879.5:n.718G>T | ||
| ENST00000479074.5:n.725G>T | ||
| ENST00000479730.5:n.783G>T | ||
| ENST00000483041.5:n.836G>T | ||
| ENST00000486063.5:n.847G>T | ||
| NM_000500.7:c.667G>T | NP_000491.4:p.Gly223Cys | |
| NM_001128590.3:c.577G>T | NP_001122062.3:p.Gly193Cys | |
| XM_011514314.1:c.262G>T | XP_011512616.1:p.Gly88Cys | |
| NM_000500.9:c.667G>T MANE Select | NP_000491.4:p.Gly223Cys | |
| NM_001368143.1:c.262G>T | NP_001355072.1:p.Gly88Cys | |
| NM_001368144.1:c.262G>T | NP_001355073.1:p.Gly88Cys | |
| NM_001128590.4:c.577G>T | NP_001122062.3:p.Gly193Cys | |
| NM_001368143.2:c.262G>T | NP_001355072.1:p.Gly88Cys | |
| NM_001368144.2:c.262G>T | NP_001355073.1:p.Gly88Cys |