Linked Data
ClinVar Variation Id:
188723
dbSNP Id:
rs104886039
ExAC:
11:71155068 G / A
gnomAD v2:
11-71155068-G-A
gnomAD v3:
11-71444022-G-A
gnomAD v4:
11-71444022-G-A
PubMed:
PMID:15805162
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71444022G>A , CM000673.2:g.71444022G>A | GRCh38 |
| NC_000011.9:g.71155068G>A , CM000673.1:g.71155068G>A | GRCh37 |
| NC_000011.8:g.70832716G>A | NCBI36 |
| NG_012655.2:g.9410C>T , LRG_340:g.9410C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.292C>T | ENSP00000435707.3:p.Gln98Ter | |
| ENST00000526780.6:c.292C>T | ENSP00000435668.2:p.Gln98Ter | |
| ENST00000527316.6:c.118C>T | ENSP00000435047.2:p.Gln40Ter | |
| ENST00000682708.1:c.292C>T | ENSP00000506866.1:p.Gln98Ter | |
| ENST00000682880.1:c.292C>T | ENSP00000507520.1:p.Gln98Ter | |
| ENST00000683287.1:c.292C>T | ENSP00000507607.1:p.Gln98Ter | |
| ENST00000683714.1:c.292C>T | ENSP00000508207.1:p.Gln98Ter | |
| ENST00000683874.1:n.569C>T | ||
| ENST00000685320.1:c.-294C>T | ENSP00000509319.1:n.-294C>T | |
| ENST00000690257.1:c.196C>T | ENSP00000510750.1:p.Gln66Ter | |
| ENST00000355527.8:c.292C>T MANE Select | ENSP00000347717.4:p.Gln98Ter | |
| ENST00000355527.7:c.292C>T | ENSP00000347717.3:p.Gln98Ter | |
| ENST00000407721.6:c.292C>T | ENSP00000384739.2:p.Gln98Ter | |
| ENST00000525346.5:c.292C>T | ENSP00000435707.2:p.Gln98Ter | |
| ENST00000526780.5:c.292C>T | ENSP00000435668.1:p.Gln98Ter | |
| ENST00000527316.5:c.196C>T | ENSP00000435047.1:p.Gln66Ter | |
| ENST00000531364.5:c.292C>T | ENSP00000432589.1:p.Gln98Ter | |
| NM_001163817.1:c.292C>T | NP_001157289.1:p.Gln98Ter | |
| NM_001360.2:c.292C>T , LRG_340t1:c.292C>T | NP_001351.2:p.Gln98Ter | |
| XM_011544777.1:c.292C>T | XP_011543079.1:p.Gln98Ter | |
| XM_011544777.2:c.292C>T | XP_011543079.1:p.Gln98Ter | |
| NM_001163817.2:c.292C>T | NP_001157289.1:p.Gln98Ter | |
| NM_001360.3:c.292C>T MANE Select | NP_001351.2:p.Gln98Ter |