Linked Data
ClinVar Variation Id:
184277
dbSNP Id:
rs398123329
gnomAD v3:
10-87960922-C-T
gnomAD v4:
10-87960922-C-T
COSMIC:
COSM35645
ERepo:
CA000207/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87960922C>T , CM000672.2:g.87960922C>T | GRCh38 |
| NC_000010.10:g.89720679C>T , CM000672.1:g.89720679C>T | GRCh37 |
| NC_000010.9:g.89710659C>T | NCBI36 |
| NG_007466.2:g.102484C>T , LRG_311:g.102484C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.923C>T | ENSP00000514759.2:p.Thr308Ile | |
| ENST00000710265.1:c.830C>T | ENSP00000518161.1:p.Thr277Ile | |
| ENST00000472832.3:c.830C>T | ENSP00000483066.2:p.Thr277Ile | |
| ENST00000688158.2:n.1565C>T | ||
| ENST00000688922.2:c.*660C>T | ENSP00000508742.2:n.*660C>T | |
| ENST00000700021.1:c.785C>T | ENSP00000514757.1:p.Thr262Ile | |
| ENST00000700022.1:c.*169C>T | ENSP00000514758.1:n.*169C>T | |
| ENST00000700023.1:n.1988C>T | ||
| ENST00000700024.1:n.2222C>T | ||
| ENST00000700025.1:n.1599C>T | ||
| ENST00000700026.1:n.467C>T | ||
| ENST00000700029.1:c.757C>T | ||
| ENST00000706954.1:c.830C>T | ENSP00000516674.1:p.Thr277Ile | |
| ENST00000706955.1:c.*865C>T | ENSP00000516675.1:n.*865C>T | |
| ENST00000686459.1:c.*416C>T | ENSP00000508909.1:n.*416C>T | |
| ENST00000688158.1:c.*941C>T | ENSP00000509254.1:n.*941C>T | |
| ENST00000688308.1:c.830C>T | ENSP00000508752.1:p.Thr277Ile | |
| ENST00000688922.1:c.751C>T | ||
| ENST00000693560.1:c.1349C>T | ENSP00000509861.1:p.Thr450Ile | |
| ENST00000371953.8:c.830C>T MANE Select | ENSP00000361021.3:p.Thr277Ile | |
| ENST00000371953.7:c.830C>T | ENSP00000361021.3:p.Thr277Ile | |
| ENST00000472832.2:c.257C>T | ENSP00000483066.1:p.Thr86Ile | |
| NM_000314.5:c.830C>T | NP_000305.3:p.Thr277Ile | |
| NM_000314.6:c.830C>T | NP_000305.3:p.Thr277Ile | |
| NM_001304717.2:c.1349C>T | NP_001291646.2:p.Thr450Ile | |
| NM_001304718.1:c.239C>T | NP_001291647.1:p.Thr80Ile | |
| XM_006717926.2:c.785C>T | XP_006717989.1:p.Thr262Ile | |
| XM_011539981.1:c.830C>T | XP_011538283.1:p.Thr277Ile | |
| XM_011539982.1:c.734C>T | XP_011538284.1:p.Thr245Ile | |
| XR_945791.1:n.1400C>T | ||
| NM_000314.7:c.830C>T | NP_000305.3:p.Thr277Ile | |
| NM_001304717.5:c.1349C>T | NP_001291646.4:p.Thr450Ile | |
| NM_001304718.2:c.239C>T | NP_001291647.1:p.Thr80Ile | |
| NM_000314.8:c.830C>T MANE Select | NP_000305.3:p.Thr277Ile |