Linked Data
ClinVar Variation Id:
420491
dbSNP Id:
rs1064794513
gnomAD v4:
10-87864511-G-A
ERepo:
CA16619040/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87864511G>A , CM000672.2:g.87864511G>A | GRCh38 |
| NC_000010.10:g.89624268G>A , CM000672.1:g.89624268G>A | GRCh37 |
| NC_000010.9:g.89614248G>A | NCBI36 |
| NG_007466.2:g.6073G>A , LRG_311:g.6073G>A | |
| NG_033079.1:g.3927C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700029.2:c.42G>A | ENSP00000514759.2:p.Arg14= | |
| ENST00000710265.1:c.42G>A | ENSP00000518161.1:p.Arg14= | |
| ENST00000472832.3:c.42G>A | ENSP00000483066.2:p.Arg14= | |
| ENST00000688922.2:c.42G>A | ENSP00000508742.2:p.Arg14= | |
| ENST00000700021.1:c.42G>A | ENSP00000514757.1:p.Arg14= | |
| ENST00000700022.1:c.42G>A | ENSP00000514758.1:p.Arg14= | |
| ENST00000706954.1:c.42G>A | ENSP00000516674.1:p.Arg14= | |
| ENST00000706955.1:c.42G>A | ENSP00000516675.1:p.Arg14= | |
| ENST00000686459.1:c.42G>A | ENSP00000508909.1:p.Arg14= | |
| ENST00000688158.1:c.42G>A | ENSP00000509254.1:p.Arg14= | |
| ENST00000688308.1:c.42G>A | ENSP00000508752.1:p.Arg14= | |
| ENST00000693560.1:c.561G>A | ENSP00000509861.1:p.Arg187= | |
| ENST00000371953.8:c.42G>A MANE Select | ENSP00000361021.3:p.Arg14= | |
| ENST00000371953.7:c.42G>A | ENSP00000361021.3:p.Arg14= | |
| ENST00000462694.1:n.44G>A | ||
| ENST00000487939.1:n.63G>A | ||
| ENST00000610634.1:c.-61G>A | ENSP00000477517.1:n.-61G>A | |
| ENST00000618586.1:n.11G>A | ||
| NM_000314.5:c.42G>A | NP_000305.3:p.Arg14= | |
| NM_000314.6:c.42G>A | NP_000305.3:p.Arg14= | |
| NM_001304717.2:c.561G>A | NP_001291646.2:p.Arg187= | |
| NM_001304718.1:c.-664G>A | NP_001291647.1:n.-664G>A | |
| XM_006717926.2:c.42G>A | XP_006717989.1:p.Arg14= | |
| XM_011539981.1:c.42G>A | XP_011538283.1:p.Arg14= | |
| XR_945789.1:n.754G>A | ||
| XR_945790.1:n.754G>A | ||
| XR_945791.1:n.754G>A | ||
| NM_000314.7:c.42G>A | NP_000305.3:p.Arg14= | |
| NM_001304717.5:c.561G>A | NP_001291646.4:p.Arg187= | |
| NM_001304718.2:c.-664G>A | NP_001291647.1:n.-664G>A | |
| NM_000314.8:c.42G>A MANE Select | NP_000305.3:p.Arg14= |