Linked Data
ClinVar Variation Id:
1670585
dbSNP Id:
rs2132290073
MyVariant Identifiers:
chr10:g.89725169C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87965412C>T , CM000672.2:g.87965412C>T | GRCh38 |
| NC_000010.10:g.89725169C>T , CM000672.1:g.89725169C>T | GRCh37 |
| NC_000010.9:g.89715149C>T | NCBI36 |
| NG_007466.2:g.106974C>T , LRG_311:g.106974C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.1245C>T | ENSP00000514759.2:p.Asp415= | |
| ENST00000710265.1:c.*181C>T | ENSP00000518161.1:n.*181C>T | |
| ENST00000688158.2:n.1887C>T | ||
| ENST00000688922.2:c.*982C>T | ENSP00000508742.2:n.*982C>T | |
| ENST00000700021.1:c.1107C>T | ENSP00000514757.1:p.Asp369= | |
| ENST00000700022.1:c.*491C>T | ENSP00000514758.1:n.*491C>T | |
| ENST00000700023.1:n.2310C>T | ||
| ENST00000700024.1:n.2544C>T | ||
| ENST00000706954.1:c.1152C>T | ENSP00000516674.1:p.Asp384= | |
| ENST00000706955.1:c.*1187C>T | ENSP00000516675.1:n.*1187C>T | |
| ENST00000686459.1:c.*738C>T | ENSP00000508909.1:n.*738C>T | |
| ENST00000688158.1:c.*1263C>T | ENSP00000509254.1:n.*1263C>T | |
| ENST00000688308.1:c.1152C>T | ENSP00000508752.1:p.Asp384= | |
| ENST00000688922.1:c.1073C>T | ||
| ENST00000693560.1:c.1671C>T | ENSP00000509861.1:p.Asp557= | |
| ENST00000371953.8:c.1152C>T MANE Select | ENSP00000361021.3:p.Asp384= | |
| ENST00000371953.7:c.1152C>T | ENSP00000361021.3:p.Asp384= | |
| NM_000314.5:c.1152C>T | NP_000305.3:p.Asp384= | |
| NM_000314.6:c.1152C>T | NP_000305.3:p.Asp384= | |
| NM_001304717.2:c.1671C>T | NP_001291646.2:p.Asp557= | |
| NM_001304718.1:c.561C>T | NP_001291647.1:p.Asp187= | |
| XM_006717926.2:c.1107C>T | XP_006717989.1:p.Asp369= | |
| XM_011539982.1:c.1056C>T | XP_011538284.1:p.Asp352= | |
| XR_945791.1:n.1722C>T | ||
| NM_000314.7:c.1152C>T | NP_000305.3:p.Asp384= | |
| NM_001304717.5:c.1671C>T | NP_001291646.4:p.Asp557= | |
| NM_001304718.2:c.561C>T | NP_001291647.1:p.Asp187= | |
| NM_000314.8:c.1152C>T MANE Select | NP_000305.3:p.Asp384= |