Linked Data
ClinVar Variation Id:
926277
dbSNP Id:
rs1860626419
COSMIC:
COSM5167
MyVariant Identifiers:
chr10:g.89720770G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87961013G>A , CM000672.2:g.87961013G>A | GRCh38 |
| NC_000010.10:g.89720770G>A , CM000672.1:g.89720770G>A | GRCh37 |
| NC_000010.9:g.89710750G>A | NCBI36 |
| NG_007466.2:g.102575G>A , LRG_311:g.102575G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.1014G>A | ENSP00000514759.2:p.Glu338= | |
| ENST00000710265.1:c.921G>A | ENSP00000518161.1:p.Glu307= | |
| ENST00000472832.3:c.921G>A | ENSP00000483066.2:p.Glu307= | |
| ENST00000688158.2:n.1656G>A | ||
| ENST00000688922.2:c.*751G>A | ENSP00000508742.2:n.*751G>A | |
| ENST00000700021.1:c.876G>A | ENSP00000514757.1:p.Glu292= | |
| ENST00000700022.1:c.*260G>A | ENSP00000514758.1:n.*260G>A | |
| ENST00000700023.1:n.2079G>A | ||
| ENST00000700024.1:n.2313G>A | ||
| ENST00000700025.1:n.1690G>A | ||
| ENST00000700026.1:n.558G>A | ||
| ENST00000706954.1:c.921G>A | ENSP00000516674.1:p.Glu307= | |
| ENST00000706955.1:c.*956G>A | ENSP00000516675.1:n.*956G>A | |
| ENST00000686459.1:c.*507G>A | ENSP00000508909.1:n.*507G>A | |
| ENST00000688158.1:c.*1032G>A | ENSP00000509254.1:n.*1032G>A | |
| ENST00000688308.1:c.921G>A | ENSP00000508752.1:p.Glu307= | |
| ENST00000688922.1:c.842G>A | ||
| ENST00000693560.1:c.1440G>A | ENSP00000509861.1:p.Glu480= | |
| ENST00000371953.8:c.921G>A MANE Select | ENSP00000361021.3:p.Glu307= | |
| ENST00000371953.7:c.921G>A | ENSP00000361021.3:p.Glu307= | |
| ENST00000472832.2:c.348G>A | ENSP00000483066.1:p.Glu116= | |
| NM_000314.5:c.921G>A | NP_000305.3:p.Glu307= | |
| NM_000314.6:c.921G>A | NP_000305.3:p.Glu307= | |
| NM_001304717.2:c.1440G>A | NP_001291646.2:p.Glu480= | |
| NM_001304718.1:c.330G>A | NP_001291647.1:p.Glu110= | |
| XM_006717926.2:c.876G>A | XP_006717989.1:p.Glu292= | |
| XM_011539981.1:c.921G>A | XP_011538283.1:p.Glu307= | |
| XM_011539982.1:c.825G>A | XP_011538284.1:p.Glu275= | |
| XR_945791.1:n.1491G>A | ||
| NM_000314.7:c.921G>A | NP_000305.3:p.Glu307= | |
| NM_001304717.5:c.1440G>A | NP_001291646.4:p.Glu480= | |
| NM_001304718.2:c.330G>A | NP_001291647.1:p.Glu110= | |
| NM_000314.8:c.921G>A MANE Select | NP_000305.3:p.Glu307= |