Linked Data
dbSNP Id:
rs750894563
ExAC:
1:40431219 A / G
gnomAD v2:
1-40431219-A-G
gnomAD v4:
1-39965547-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.39965547A>G , CM000663.2:g.39965547A>G | GRCh38 |
| NC_000001.10:g.40431219A>G , CM000663.1:g.40431219A>G | GRCh37 |
| NC_000001.9:g.40203806A>G | NCBI36 |
| NG_053084.1:g.15436A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372811.10:c.554A>G MANE Select | ENSP00000361898.6:p.Tyr185Cys | |
| ENST00000372809.5:c.593A>G | ENSP00000361895.5:p.Tyr198Cys | |
| ENST00000372811.9:c.554A>G | ENSP00000361898.5:p.Tyr185Cys | |
| ENST00000420632.6:c.86A>G | ENSP00000391261.2:p.Tyr29Cys | |
| ENST00000434861.5:c.548A>G | ENSP00000407606.1:p.Tyr183Cys | |
| ENST00000469745.5:n.466A>G | ||
| ENST00000480630.5:n.1201A>G | ||
| ENST00000483824.5:n.689A>G | ||
| NM_001136493.2:c.593A>G | NP_001129965.1:p.Tyr198Cys | |
| NM_001287808.1:c.86A>G | NP_001274737.1:p.Tyr29Cys | |
| NM_001287809.1:c.443A>G | NP_001274738.1:p.Tyr148Cys | |
| NM_032793.4:c.554A>G | NP_116182.2:p.Tyr185Cys | |
| NR_109896.1:n.735A>G | ||
| XM_005271285.1:c.548A>G | XP_005271342.1:p.Tyr183Cys | |
| XM_011542312.1:c.554A>G | XP_011540614.1:p.Tyr185Cys | |
| XR_946783.1:n.702A>G | ||
| NM_001349821.1:c.548A>G | NP_001336750.1:p.Tyr183Cys | |
| NM_001349822.1:c.554A>G | NP_001336751.1:p.Tyr185Cys | |
| NM_001349823.1:c.209A>G | NP_001336752.1:p.Tyr70Cys | |
| NM_001136493.3:c.593A>G | NP_001129965.1:p.Tyr198Cys | |
| NM_001287809.2:c.443A>G | NP_001274738.1:p.Tyr148Cys | |
| NM_001349821.2:c.548A>G | NP_001336750.1:p.Tyr183Cys | |
| NM_001349822.2:c.554A>G | NP_001336751.1:p.Tyr185Cys | |
| NM_001349823.2:c.209A>G | NP_001336752.1:p.Tyr70Cys | |
| NM_032793.5:c.554A>G MANE Select | NP_116182.2:p.Tyr185Cys | |
| NR_109896.2:n.702A>G | ||
| NM_001287808.2:c.86A>G | NP_001274737.1:p.Tyr29Cys |