Linked Data
ClinVar Variation Id:
30510
dbSNP Id:
rs281875284
gnomAD v4:
20-58418289-C-T
PubMed:
PMID:20940299
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58418289C>T , CM000682.2:g.58418289C>T | GRCh38 |
| NC_000020.10:g.56993345C>T , CM000682.1:g.56993345C>T | GRCh37 |
| NC_000020.9:g.56426751C>T | NCBI36 |
| NG_008073.2:g.34101C>T , LRG_656:g.34101C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475243.6:c.137C>T MANE Select | ENSP00000417175.1:p.Thr46Ile | |
| ENST00000265619.6:n.435C>T | ||
| ENST00000395802.7:c.137C>T | ENSP00000379147.3:p.Thr46Ile | |
| ENST00000475243.5:c.137C>T | ENSP00000417175.1:p.Thr46Ile | |
| ENST00000520497.1:c.137C>T | ENSP00000430426.1:p.Thr46Ile | |
| NM_001195677.1:c.137C>T | NP_001182606.1:p.Thr46Ile | |
| NM_004738.4:c.137C>T , LRG_656t1:c.137C>T | NP_004729.1:p.Thr46Ile | |
| NR_036633.1:n.478C>T | ||
| XR_001754433.2:n.386C>T | ||
| NM_001195677.2:c.137C>T | NP_001182606.1:p.Thr46Ile | |
| NM_004738.5:c.137C>T MANE Select | NP_004729.1:p.Thr46Ile | |
| NR_036633.2:n.368C>T |