Linked Data
ClinVar Variation Id:
133840
dbSNP Id:
rs147194821
ExAC:
17:62007182 G / A
gnomAD v2:
17-62007182-G-A
gnomAD v3:
17-63929822-G-A
gnomAD v4:
17-63929822-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63929822G>A , CM000679.2:g.63929822G>A | GRCh38 |
| NC_000017.10:g.62007182G>A , CM000679.1:g.62007182G>A | GRCh37 |
| NC_000017.9:g.59360914G>A | NCBI36 |
| NG_007368.1:g.7523C>T , LRG_43:g.7523C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698624.1:n.494C>T | ||
| ENST00000006750.8:c.497C>T MANE Select | ENSP00000006750.4:p.Thr166Met | |
| ENST00000647774.1:c.118C>T | ||
| ENST00000006750.7:c.497C>T | ENSP00000006750.3:p.Thr166Met | |
| ENST00000349817.2:c.185C>T | ENSP00000245862.2:p.Thr62Met | |
| ENST00000392795.7:c.500C>T | ENSP00000376544.3:p.Thr167Met | |
| ENST00000559358.1:n.508C>T | ||
| NM_000626.2:c.497C>T | NP_000617.1:p.Thr166Met | |
| NM_001039933.1:c.500C>T , LRG_43t1:c.500C>T | NP_001035022.1:p.Thr167Met | |
| NM_021602.2:c.185C>T | NP_067613.1:p.Thr62Met | |
| XM_005257858.3:c.188C>T | XP_005257915.1:p.Thr63Met | |
| NM_000626.3:c.497C>T | NP_000617.1:p.Thr166Met | |
| NM_001039933.2:c.500C>T | NP_001035022.1:p.Thr167Met | |
| NM_001329050.1:c.188C>T | NP_001315979.1:p.Thr63Met | |
| NM_021602.3:c.185C>T | NP_067613.1:p.Thr62Met | |
| NM_000626.4:c.497C>T MANE Select | NP_000617.1:p.Thr166Met | |
| NM_001039933.3:c.500C>T | NP_001035022.1:p.Thr167Met | |
| NM_001329050.2:c.188C>T | NP_001315979.1:p.Thr63Met | |
| NM_021602.4:c.185C>T | NP_067613.1:p.Thr62Met |