Linked Data
ClinVar Variation Id:
141014
dbSNP Id:
rs553907248
ExAC:
16:68853185 A / G
gnomAD v2:
16-68853185-A-G
gnomAD v3:
16-68819282-A-G
gnomAD v4:
16-68819282-A-G
PubMed:
PMID:27392081
ERepo:
CA090925/MONDO:0100488/007
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68819282A>G , CM000678.2:g.68819282A>G | GRCh38 |
| NC_000016.9:g.68853185A>G , CM000678.1:g.68853185A>G | GRCh37 |
| NC_000016.8:g.67410686A>G | NCBI36 |
| NG_008021.1:g.86991A>G , LRG_301:g.86991A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.1568A>G MANE Select | ENSP00000261769.4:p.Tyr523Cys | |
| ENST00000261769.9:c.1568A>G | ENSP00000261769.4:p.Tyr523Cys | |
| ENST00000422392.6:c.1385A>G | ENSP00000414946.2:p.Tyr462Cys | |
| ENST00000562836.5:n.1639A>G | ||
| ENST00000566510.5:c.*234A>G | ENSP00000458139.1:n.*234A>G | |
| ENST00000566612.5:c.1566-2719A>G | ENSP00000454782.1:n.1566-2719A>G | |
| ENST00000611625.4:c.1631A>G | ENSP00000481063.1:p.Tyr544Cys | |
| ENST00000612417.4:c.1568A>G | ENSP00000478360.1:p.Tyr523Cys | |
| ENST00000621016.4:c.1568A>G | ENSP00000480664.1:p.Tyr523Cys | |
| NM_004360.3:c.1568A>G , LRG_301t1:c.1568A>G | NP_004351.1:p.Tyr523Cys | |
| XM_011523488.1:c.833A>G | XP_011521790.1:p.Tyr278Cys | |
| XM_011523489.1:c.833A>G | XP_011521791.1:p.Tyr278Cys | |
| NM_001317184.1:c.1385A>G | NP_001304113.1:p.Tyr462Cys | |
| NM_001317185.1:c.20A>G | NP_001304114.1:p.Tyr7Cys | |
| NM_001317186.1:c.-254-2719A>G | NP_001304115.1:n.-254-2719A>G | |
| NM_004360.4:c.1568A>G | NP_004351.1:p.Tyr523Cys | |
| NM_004360.5:c.1568A>G MANE Select | NP_004351.1:p.Tyr523Cys | |
| NM_001317184.2:c.1385A>G | NP_001304113.1:p.Tyr462Cys | |
| NM_001317185.2:c.20A>G | NP_001304114.1:p.Tyr7Cys | |
| NM_001317186.2:c.-254-2719A>G | NP_001304115.1:n.-254-2719A>G |