Linked Data
ClinVar Variation Id:
430220
dbSNP Id:
rs779896782
ExAC:
11:71150101 A / C
gnomAD v2:
11-71150101-A-C
gnomAD v3:
11-71439055-A-C
gnomAD v4:
11-71439055-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71439055A>C , CM000673.2:g.71439055A>C | GRCh38 |
| NC_000011.9:g.71150101A>C , CM000673.1:g.71150101A>C | GRCh37 |
| NC_000011.8:g.70827749A>C | NCBI36 |
| NG_012655.2:g.14377T>G , LRG_340:g.14377T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.655T>G | ENSP00000435707.3:p.Tyr219Asp | |
| ENST00000526780.6:c.655T>G | ENSP00000435668.2:p.Tyr219Asp | |
| ENST00000527316.6:c.481T>G | ENSP00000435047.2:p.Tyr161Asp | |
| ENST00000682708.1:c.706T>G | ENSP00000506866.1:p.Tyr236Asp | |
| ENST00000682880.1:c.655T>G | ENSP00000507520.1:p.Tyr219Asp | |
| ENST00000683287.1:c.691T>G | ENSP00000507607.1:p.Tyr231Asp | |
| ENST00000683714.1:c.655T>G | ENSP00000508207.1:p.Tyr219Asp | |
| ENST00000684396.1:n.695T>G | ||
| ENST00000685320.1:c.70T>G | ENSP00000509319.1:p.Tyr24Asp | |
| ENST00000690257.1:c.559T>G | ENSP00000510750.1:p.Tyr187Asp | |
| ENST00000355527.8:c.655T>G MANE Select | ENSP00000347717.4:p.Tyr219Asp | |
| ENST00000355527.7:c.655T>G | ENSP00000347717.3:p.Tyr219Asp | |
| ENST00000407721.6:c.655T>G | ENSP00000384739.2:p.Tyr219Asp | |
| ENST00000525137.1:c.22T>G | ENSP00000435956.1:p.Tyr8Asp | |
| ENST00000527316.5:c.559T>G | ENSP00000435047.1:p.Tyr187Asp | |
| ENST00000534701.1:n.150T>G | ||
| ENST00000534795.5:c.11T>G | ||
| NM_001163817.1:c.655T>G | NP_001157289.1:p.Tyr219Asp | |
| NM_001360.2:c.655T>G , LRG_340t1:c.655T>G | NP_001351.2:p.Tyr219Asp | |
| XM_011544777.1:c.655T>G | XP_011543079.1:p.Tyr219Asp | |
| XM_011544777.2:c.655T>G | XP_011543079.1:p.Tyr219Asp | |
| NM_001163817.2:c.655T>G | NP_001157289.1:p.Tyr219Asp | |
| NM_001360.3:c.655T>G MANE Select | NP_001351.2:p.Tyr219Asp |