Linked Data
dbSNP Id:
rs776029298
ExAC:
6:32006978 G / T
gnomAD v2:
6-32006978-G-T
gnomAD v4:
6-32039201-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32039201G>T , CM000668.2:g.32039201G>T | GRCh38 |
| NC_000006.11:g.32006978G>T , CM000668.1:g.32006978G>T | GRCh37 |
| NC_000006.10:g.32114957G>T | NCBI36 |
| NG_007941.2:g.5894G>T | |
| NG_008337.2:g.75174C>A | |
| NG_007941.3:g.5897G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.400G>T MANE Select | ENSP00000496625.1:p.Asp134Tyr | |
| ENST00000418967.6:c.400G>T | ENSP00000408860.2:p.Asp134Tyr | |
| ENST00000435122.3:c.310G>T | ENSP00000415043.2:p.Asp104Tyr | |
| ENST00000464325.5:n.321G>T | ||
| ENST00000466779.5:c.*92G>T | ENSP00000417321.1:n.*92G>T | |
| ENST00000466879.5:n.451G>T | ||
| ENST00000469053.5:c.*92G>T | ENSP00000418104.1:n.*92G>T | |
| ENST00000471671.4:c.400G>T | ENSP00000418561.1:p.Asp134Tyr | |
| ENST00000478281.5:c.433G>T | ENSP00000419572.1:p.Asp145Tyr | |
| ENST00000479074.5:n.458G>T | ||
| ENST00000479730.5:n.555G>T | ||
| ENST00000483041.5:n.569G>T | ||
| ENST00000486063.5:n.580G>T | ||
| ENST00000488465.1:n.408G>T | ||
| NM_000500.7:c.400G>T | NP_000491.4:p.Asp134Tyr | |
| NM_001128590.3:c.310G>T | NP_001122062.3:p.Asp104Tyr | |
| XM_011514314.1:c.-6G>T | XP_011512616.1:n.-6G>T | |
| NM_000500.9:c.400G>T MANE Select | NP_000491.4:p.Asp134Tyr | |
| NM_001368143.1:c.-6G>T | NP_001355072.1:n.-6G>T | |
| NM_001368144.1:c.-6G>T | NP_001355073.1:n.-6G>T | |
| NM_001128590.4:c.310G>T | NP_001122062.3:p.Asp104Tyr | |
| NM_001368143.2:c.-6G>T | NP_001355072.1:n.-6G>T | |
| NM_001368144.2:c.-6G>T | NP_001355073.1:n.-6G>T |