Linked Data
ClinVar Variation Id:
7301
dbSNP Id:
rs104894211
gnomAD v2:
11-88027526-T-C
gnomAD v4:
11-88294358-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.88294358T>C , CM000673.2:g.88294358T>C | GRCh38 |
| NC_000011.9:g.88027526T>C , CM000673.1:g.88027526T>C | GRCh37 |
| NC_000011.8:g.87667174T>C | NCBI36 |
| NG_007952.1:g.48416A>G , LRG_50:g.48416A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227266.10:c.1040A>G MANE Select | ENSP00000227266.4:p.Tyr347Cys | |
| ENST00000533897.2:n.5353A>G | ||
| ENST00000676612.1:c.*847A>G | ENSP00000504440.1:n.*847A>G | |
| ENST00000677208.1:c.*546A>G | ENSP00000504347.1:n.*546A>G | |
| ENST00000677661.1:c.*717A>G | ENSP00000503323.1:n.*717A>G | |
| ENST00000677802.1:c.*717A>G | ENSP00000504115.1:n.*717A>G | |
| ENST00000678395.1:c.*546A>G | ENSP00000503123.1:n.*546A>G | |
| ENST00000678464.1:c.1007A>G | ENSP00000503046.1:p.Tyr336Cys | |
| ENST00000678506.1:c.1001A>G | ENSP00000503580.1:p.Tyr334Cys | |
| ENST00000678520.1:c.*691A>G | ENSP00000503361.1:n.*691A>G | |
| ENST00000678554.1:c.889+1775A>G | ENSP00000504541.1:n.889+1775A>G | |
| ENST00000678915.1:c.908A>G | ENSP00000504805.1:p.Tyr303Cys | |
| ENST00000679224.1:c.677A>G | ENSP00000504475.1:p.Tyr226Cys | |
| ENST00000227266.9:c.1040A>G | ENSP00000227266.4:p.Tyr347Cys | |
| ENST00000533897.1:n.3774A>G | ||
| NM_001814.4:c.1040A>G , LRG_50t1:c.1040A>G | NP_001805.3:p.Tyr347Cys | |
| NM_001814.5:c.1040A>G | NP_001805.3:p.Tyr347Cys | |
| NM_001814.6:c.1040A>G MANE Select | NP_001805.4:p.Tyr347Cys |