Linked Data
ClinVar Variation Id:
60689
ClinVar RCV Id:
RCV000054502
dbSNP Id:
rs397514736
PubMed:
PMID:23047743
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22259652C>T , CM000673.2:g.22259652C>T | GRCh38 |
| NC_000011.9:g.22281198C>T , CM000673.1:g.22281198C>T | GRCh37 |
| NC_000011.8:g.22237774C>T | NCBI36 |
| NG_015844.1:g.71477C>T , LRG_868:g.71477C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682266.1:c.1091C>T | ENSP00000507766.1:p.Thr364Ile | |
| ENST00000682341.1:c.1499C>T | ENSP00000508251.1:p.Thr500Ile | |
| ENST00000683197.1:c.1499C>T | ENSP00000507641.1:p.Thr500Ile | |
| ENST00000683411.1:c.1091C>T | ENSP00000508397.1:p.Thr364Ile | |
| ENST00000683437.1:c.1091C>T | ENSP00000508408.1:p.Thr364Ile | |
| ENST00000683613.1:n.2535C>T | ||
| ENST00000684663.1:c.1496C>T | ENSP00000508009.1:p.Thr499Ile | |
| ENST00000324559.9:c.1541C>T MANE Select | ENSP00000315371.9:p.Thr514Ile | |
| ENST00000648804.1:n.1876C>T | ||
| ENST00000324559.8:c.1541C>T | ENSP00000315371.8:p.Thr514Ile | |
| NM_001142649.1:c.1538C>T | NP_001136121.1:p.Thr513Ile | |
| NM_213599.2:c.1541C>T , LRG_868t1:c.1541C>T | NP_998764.1:p.Thr514Ile | |
| XM_005252820.2:c.1499C>T | XP_005252877.2:p.Thr500Ile | |
| XM_005252821.2:c.1496C>T | XP_005252878.2:p.Thr499Ile | |
| XM_005252822.3:c.1463C>T | XP_005252879.1:p.Thr488Ile | |
| XM_005252823.3:c.1460C>T | XP_005252880.1:p.Thr487Ile | |
| XM_011519949.1:c.1448C>T | XP_011518251.1:p.Thr483Ile | |
| XM_005252820.3:c.1499C>T | XP_005252877.2:p.Thr500Ile | |
| XM_005252821.3:c.1496C>T | XP_005252878.2:p.Thr499Ile | |
| XM_005252822.4:c.1463C>T | XP_005252879.1:p.Thr488Ile | |
| XM_011519949.2:c.1448C>T | XP_011518251.1:p.Thr483Ile | |
| NM_001142649.2:c.1538C>T | NP_001136121.1:p.Thr513Ile | |
| NM_213599.3:c.1541C>T MANE Select | NP_998764.1:p.Thr514Ile |