Linked Data
ClinVar Variation Id:
1097596
dbSNP Id:
rs1860740348
gnomAD v3:
10-87965469-C-G
gnomAD v4:
10-87965469-C-G
MyVariant Identifiers:
chr10:g.89725226C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87965469C>G , CM000672.2:g.87965469C>G | GRCh38 |
| NC_000010.10:g.89725226C>G , CM000672.1:g.89725226C>G | GRCh37 |
| NC_000010.9:g.89715206C>G | NCBI36 |
| NG_007466.2:g.107031C>G , LRG_311:g.107031C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.1302C>G | ENSP00000514759.2:p.Val434= | |
| ENST00000710265.1:c.*238C>G | ENSP00000518161.1:n.*238C>G | |
| ENST00000688158.2:n.1944C>G | ||
| ENST00000688922.2:c.*1039C>G | ENSP00000508742.2:n.*1039C>G | |
| ENST00000700021.1:c.1164C>G | ENSP00000514757.1:p.Val388= | |
| ENST00000700022.1:c.*548C>G | ENSP00000514758.1:n.*548C>G | |
| ENST00000700023.1:n.2367C>G | ||
| ENST00000700024.1:n.2601C>G | ||
| ENST00000706954.1:c.1209C>G | ENSP00000516674.1:p.Val403= | |
| ENST00000706955.1:c.*1244C>G | ENSP00000516675.1:n.*1244C>G | |
| ENST00000686459.1:c.*795C>G | ENSP00000508909.1:n.*795C>G | |
| ENST00000688158.1:c.*1320C>G | ENSP00000509254.1:n.*1320C>G | |
| ENST00000688308.1:c.1209C>G | ENSP00000508752.1:p.Val403= | |
| ENST00000688922.1:c.1130C>G | ||
| ENST00000693560.1:c.1728C>G | ENSP00000509861.1:p.Val576= | |
| ENST00000371953.8:c.1209C>G MANE Select | ENSP00000361021.3:p.Val403= | |
| ENST00000371953.7:c.1209C>G | ENSP00000361021.3:p.Val403= | |
| NM_000314.5:c.1209C>G | NP_000305.3:p.Val403= | |
| NM_000314.6:c.1209C>G | NP_000305.3:p.Val403= | |
| NM_001304717.2:c.1728C>G | NP_001291646.2:p.Val576= | |
| NM_001304718.1:c.618C>G | NP_001291647.1:p.Val206= | |
| XM_006717926.2:c.1164C>G | XP_006717989.1:p.Val388= | |
| XM_011539982.1:c.1113C>G | XP_011538284.1:p.Val371= | |
| XR_945791.1:n.1779C>G | ||
| NM_000314.7:c.1209C>G | NP_000305.3:p.Val403= | |
| NM_001304717.5:c.1728C>G | NP_001291646.4:p.Val576= | |
| NM_001304718.2:c.618C>G | NP_001291647.1:p.Val206= | |
| NM_000314.8:c.1209C>G MANE Select | NP_000305.3:p.Val403= |