Linked Data
ClinVar Variation Id:
299819
dbSNP Id:
rs190213580
ExAC:
10:27822872 G / T
gnomAD v2:
10-27822872-G-T
gnomAD v3:
10-27533943-G-T
gnomAD v4:
10-27533943-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27533943G>T , CM000672.2:g.27533943G>T | GRCh38 |
| NC_000010.10:g.27822872G>T , CM000672.1:g.27822872G>T | GRCh37 |
| NC_000010.9:g.27862878G>T | NCBI36 |
| NG_032035.1:g.34770G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000535776.6:c.481G>T | ENSP00000439321.2:p.Asp161Tyr | |
| ENST00000611151.5:c.*182G>T | ENSP00000483927.2:n.*182G>T | |
| ENST00000621805.5:c.481G>T | ENSP00000478479.1:p.Asp161Tyr | |
| ENST00000682082.1:c.394G>T | ENSP00000507542.1:p.Asp132Tyr | |
| ENST00000682173.1:c.72G>T | ||
| ENST00000682181.1:c.*699G>T | ENSP00000507392.1:n.*699G>T | |
| ENST00000682347.1:c.16G>T | ENSP00000508355.1:p.Asp6Tyr | |
| ENST00000682389.1:c.202G>T | ENSP00000507154.1:p.Asp68Tyr | |
| ENST00000682518.1:n.409G>T | ||
| ENST00000682668.1:c.747G>T | ||
| ENST00000682777.1:n.1561G>T | ||
| ENST00000682852.1:c.*239G>T | ENSP00000508341.1:n.*239G>T | |
| ENST00000682963.1:c.43G>T | ENSP00000507532.1:p.Asp15Tyr | |
| ENST00000683042.1:n.552G>T | ||
| ENST00000683385.1:n.301G>T | ||
| ENST00000683419.1:c.*166+90G>T | ENSP00000508094.1:n.*166+90G>T | |
| ENST00000683446.1:n.327G>T | ||
| ENST00000683538.1:c.747G>T | ||
| ENST00000683755.1:c.381G>T | ENSP00000506993.1:p.Ser127= | |
| ENST00000683797.1:c.43G>T | ENSP00000508179.1:p.Asp15Tyr | |
| ENST00000683816.1:c.*317G>T | ENSP00000507834.1:n.*317G>T | |
| ENST00000683866.1:c.197G>T | ||
| ENST00000683924.1:c.178G>T | ENSP00000507963.1:p.Asp60Tyr | |
| ENST00000684134.1:n.5354G>T | ||
| ENST00000684191.1:c.16G>T | ENSP00000508185.1:p.Asp6Tyr | |
| ENST00000684393.1:c.*699G>T | ENSP00000507136.1:n.*699G>T | |
| ENST00000684501.1:c.378+90G>T | ENSP00000507589.1:n.378+90G>T | |
| ENST00000356940.11:c.394G>T MANE Select | ENSP00000349415.7:p.Asp132Tyr | |
| ENST00000356940.10:c.394G>T | ENSP00000349415.6:p.Asp132Tyr | |
| ENST00000375802.7:c.259G>T | ENSP00000364960.3:p.Asp87Tyr | |
| ENST00000423465.1:c.731G>T | ||
| ENST00000465772.5:n.371+90G>T | ||
| ENST00000535776.5:c.202G>T | ENSP00000439321.1:p.Asp68Tyr | |
| ENST00000611151.4:c.322G>T | ENSP00000483927.1:p.Asp108Tyr | |
| ENST00000621805.4:c.481G>T | ENSP00000478479.1:p.Asp161Tyr | |
| NM_001256410.1:c.481G>T | NP_001243339.1:p.Asp161Tyr | |
| NM_001256411.1:c.378+90G>T | NP_001243340.1:n.378+90G>T | |
| NM_001256412.1:c.202G>T | NP_001243341.1:p.Asp68Tyr | |
| NM_001256415.1:c.322G>T | NP_001243344.1:p.Asp108Tyr | |
| NM_021252.4:c.394G>T | NP_067075.1:p.Asp132Tyr | |
| NR_046172.1:n.528G>T | ||
| NM_001256410.2:c.481G>T | NP_001243339.1:p.Asp161Tyr | |
| NM_001256411.2:c.378+90G>T | NP_001243340.1:n.378+90G>T | |
| NM_001256412.2:c.202G>T | NP_001243341.1:p.Asp68Tyr | |
| NM_001256415.2:c.322G>T | NP_001243344.1:p.Asp108Tyr | |
| NM_021252.5:c.394G>T MANE Select | NP_067075.1:p.Asp132Tyr | |
| NR_046172.2:n.398G>T |