Linked Data
ClinVar Variation Id:
501363
dbSNP Id:
rs369654651
ExAC:
11:71150033 C / A
gnomAD v2:
11-71150033-C-A
gnomAD v3:
11-71438987-C-A
gnomAD v4:
11-71438987-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71438987C>A , CM000673.2:g.71438987C>A | GRCh38 |
| NC_000011.9:g.71150033C>A , CM000673.1:g.71150033C>A | GRCh37 |
| NC_000011.8:g.70827681C>A | NCBI36 |
| NG_012655.2:g.14445G>T , LRG_340:g.14445G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.723G>T | ENSP00000435707.3:p.Gly241= | |
| ENST00000526780.6:c.723G>T | ENSP00000435668.2:p.Gly241= | |
| ENST00000527316.6:c.549G>T | ENSP00000435047.2:p.Gly183= | |
| ENST00000682708.1:c.774G>T | ENSP00000506866.1:p.Gly258= | |
| ENST00000682880.1:c.723G>T | ENSP00000507520.1:p.Gly241= | |
| ENST00000683287.1:c.759G>T | ENSP00000507607.1:p.Gly253= | |
| ENST00000683714.1:c.723G>T | ENSP00000508207.1:p.Gly241= | |
| ENST00000684396.1:n.763G>T | ||
| ENST00000685320.1:c.138G>T | ENSP00000509319.1:p.Gly46= | |
| ENST00000690257.1:c.627G>T | ENSP00000510750.1:p.Gly209= | |
| ENST00000355527.8:c.723G>T MANE Select | ENSP00000347717.4:p.Gly241= | |
| ENST00000355527.7:c.723G>T | ENSP00000347717.3:p.Gly241= | |
| ENST00000407721.6:c.723G>T | ENSP00000384739.2:p.Gly241= | |
| ENST00000525137.1:c.90G>T | ENSP00000435956.1:p.Gly30= | |
| ENST00000527316.5:c.627G>T | ENSP00000435047.1:p.Gly209= | |
| ENST00000534701.1:n.218G>T | ||
| ENST00000534795.5:c.79G>T | ||
| NM_001163817.1:c.723G>T | NP_001157289.1:p.Gly241= | |
| NM_001360.2:c.723G>T , LRG_340t1:c.723G>T | NP_001351.2:p.Gly241= | |
| XM_011544777.1:c.723G>T | XP_011543079.1:p.Gly241= | |
| XM_011544777.2:c.723G>T | XP_011543079.1:p.Gly241= | |
| NM_001163817.2:c.723G>T | NP_001157289.1:p.Gly241= | |
| NM_001360.3:c.723G>T MANE Select | NP_001351.2:p.Gly241= |