Linked Data
ClinVar Variation Id:
9202
dbSNP Id:
rs58639322
ExAC:
10:124800121 C / T
gnomAD v2:
10-124800121-C-T
gnomAD v3:
10-123040605-C-T
gnomAD v4:
10-123040605-C-T
PubMed:
PMID:17945527
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123040605C>T , CM000672.2:g.123040605C>T | GRCh38 |
| NC_000010.10:g.124800121C>T , CM000672.1:g.124800121C>T | GRCh37 |
| NC_000010.9:g.124790111C>T | NCBI36 |
| NG_008003.1:g.36693C>T , LRG_451:g.36693C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358776.7:c.443C>T MANE Select | ENSP00000357873.3:p.Thr148Ile | |
| ENST00000358776.6:c.443C>T | ENSP00000357873.3:p.Thr148Ile | |
| ENST00000368869.8:c.137C>T | ENSP00000357862.4:p.Thr46Ile | |
| ENST00000411816.2:n.460C>T | ||
| NM_001609.3:c.443C>T , LRG_451t1:c.443C>T | NP_001600.1:p.Thr148Ile | |
| NM_001330174.1:c.137C>T | NP_001317103.1:p.Thr46Ile | |
| NM_001330174.2:c.137C>T | NP_001317103.1:p.Thr46Ile | |
| NM_001609.4:c.443C>T MANE Select | NP_001600.1:p.Thr148Ile | |
| NM_001330174.3:c.137C>T | NP_001317103.1:p.Thr46Ile |