Linked Data
ClinVar Variation Id:
1747507
dbSNP Id:
rs2132290358
MyVariant Identifiers:
chr10:g.89725217T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87965460T>A , CM000672.2:g.87965460T>A | GRCh38 |
| NC_000010.10:g.89725217T>A , CM000672.1:g.89725217T>A | GRCh37 |
| NC_000010.9:g.89715197T>A | NCBI36 |
| NG_007466.2:g.107022T>A , LRG_311:g.107022T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.1293T>A | ENSP00000514759.2:p.Ile431= | |
| ENST00000710265.1:c.*229T>A | ENSP00000518161.1:n.*229T>A | |
| ENST00000688158.2:n.1935T>A | ||
| ENST00000688922.2:c.*1030T>A | ENSP00000508742.2:n.*1030T>A | |
| ENST00000700021.1:c.1155T>A | ENSP00000514757.1:p.Ile385= | |
| ENST00000700022.1:c.*539T>A | ENSP00000514758.1:n.*539T>A | |
| ENST00000700023.1:n.2358T>A | ||
| ENST00000700024.1:n.2592T>A | ||
| ENST00000706954.1:c.1200T>A | ENSP00000516674.1:p.Ile400= | |
| ENST00000706955.1:c.*1235T>A | ENSP00000516675.1:n.*1235T>A | |
| ENST00000686459.1:c.*786T>A | ENSP00000508909.1:n.*786T>A | |
| ENST00000688158.1:c.*1311T>A | ENSP00000509254.1:n.*1311T>A | |
| ENST00000688308.1:c.1200T>A | ENSP00000508752.1:p.Ile400= | |
| ENST00000688922.1:c.1121T>A | ||
| ENST00000693560.1:c.1719T>A | ENSP00000509861.1:p.Ile573= | |
| ENST00000371953.8:c.1200T>A MANE Select | ENSP00000361021.3:p.Ile400= | |
| ENST00000371953.7:c.1200T>A | ENSP00000361021.3:p.Ile400= | |
| NM_000314.5:c.1200T>A | NP_000305.3:p.Ile400= | |
| NM_000314.6:c.1200T>A | NP_000305.3:p.Ile400= | |
| NM_001304717.2:c.1719T>A | NP_001291646.2:p.Ile573= | |
| NM_001304718.1:c.609T>A | NP_001291647.1:p.Ile203= | |
| XM_006717926.2:c.1155T>A | XP_006717989.1:p.Ile385= | |
| XM_011539982.1:c.1104T>A | XP_011538284.1:p.Ile368= | |
| XR_945791.1:n.1770T>A | ||
| NM_000314.7:c.1200T>A | NP_000305.3:p.Ile400= | |
| NM_001304717.5:c.1719T>A | NP_001291646.4:p.Ile573= | |
| NM_001304718.2:c.609T>A | NP_001291647.1:p.Ile203= | |
| NM_000314.8:c.1200T>A MANE Select | NP_000305.3:p.Ile400= |