Linked Data
ClinVar Variation Id:
1086399
ClinVar RCV Id:
RCV001404139
dbSNP Id:
rs778753729
ExAC:
11:71146847 G / T
gnomAD v2:
11-71146847-G-T
gnomAD v3:
11-71435801-G-T
gnomAD v4:
11-71435801-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435801G>T , CM000673.2:g.71435801G>T | GRCh38 |
| NC_000011.9:g.71146847G>T , CM000673.1:g.71146847G>T | GRCh37 |
| NC_000011.8:g.70824495G>T | NCBI36 |
| NG_012655.2:g.17631C>A , LRG_340:g.17631C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.1002C>A | ENSP00000435707.3:p.Thr334= | |
| ENST00000526780.6:c.1002C>A | ENSP00000435668.2:p.Thr334= | |
| ENST00000527316.6:c.828C>A | ENSP00000435047.2:p.Thr276= | |
| ENST00000682708.1:c.1053C>A | ENSP00000506866.1:p.Thr351= | |
| ENST00000683287.1:c.1038C>A | ENSP00000507607.1:p.Thr346= | |
| ENST00000683714.1:c.1010C>A | ENSP00000508207.1:p.Pro337His | |
| ENST00000684396.1:n.1042C>A | ||
| ENST00000685320.1:c.417C>A | ENSP00000509319.1:p.Thr139= | |
| ENST00000690257.1:c.906C>A | ENSP00000510750.1:p.Thr302= | |
| ENST00000355527.8:c.1002C>A MANE Select | ENSP00000347717.4:p.Thr334= | |
| ENST00000355527.7:c.1002C>A | ENSP00000347717.3:p.Thr334= | |
| ENST00000407721.6:c.1002C>A | ENSP00000384739.2:p.Thr334= | |
| ENST00000525137.1:c.503C>A | ENSP00000435956.1:p.Pro168His | |
| ENST00000533800.5:c.252C>A | ENSP00000435011.1:p.Thr84= | |
| ENST00000534795.5:c.319+2011C>A | ||
| NM_001163817.1:c.1002C>A | NP_001157289.1:p.Thr334= | |
| NM_001360.2:c.1002C>A , LRG_340t1:c.1002C>A | NP_001351.2:p.Thr334= | |
| XM_011544777.1:c.1136C>A | XP_011543079.1:p.Pro379His | |
| XM_011544777.2:c.1136C>A | XP_011543079.1:p.Pro379His | |
| NM_001163817.2:c.1002C>A | NP_001157289.1:p.Thr334= | |
| NM_001360.3:c.1002C>A MANE Select | NP_001351.2:p.Thr334= |