Linked Data
ClinVar Variation Id:
666764
dbSNP Id:
rs199916743
ExAC:
19:36497554 G / A
gnomAD v2:
19-36497554-G-A
gnomAD v3:
19-36006652-G-A
gnomAD v4:
19-36006652-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36006652G>A , CM000681.2:g.36006652G>A | GRCh38 |
| NC_000019.9:g.36497554G>A , CM000681.1:g.36497554G>A | GRCh37 |
| NC_000019.8:g.41189394G>A | NCBI36 |
| NG_042831.1:g.7142C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324444.9:c.638C>T MANE Select | ENSP00000316130.3:p.Thr213Met | |
| ENST00000397428.8:c.67-1215C>T | ||
| ENST00000465425.2:n.750C>T | ||
| ENST00000324444.7:c.638C>T | ENSP00000316130.3:p.Thr213Met | |
| ENST00000340477.9:c.299C>T | ENSP00000343152.5:p.Thr100Met | |
| ENST00000397428.7:c.40-1215C>T | ENSP00000380572.3:n.40-1215C>T | |
| ENST00000465425.1:n.750C>T | ||
| ENST00000490730.1:c.638C>T | ENSP00000422716.1:p.Thr213Met | |
| ENST00000503121.5:c.242+1565C>T | ||
| ENST00000505054.2:n.395-1215C>T | ||
| NM_001039876.1:c.638C>T | NP_001034965.1:p.Thr213Met | |
| NM_001039876.2:c.638C>T | NP_001034965.1:p.Thr213Met | |
| NM_001297735.1:c.299C>T | NP_001284664.1:p.Thr100Met | |
| NM_001297735.2:c.299C>T | NP_001284664.1:p.Thr100Met | |
| XM_005258598.2:c.638C>T | XP_005258655.1:p.Thr213Met | |
| XM_005258601.2:c.618+98C>T | XP_005258658.1:n.618+98C>T | |
| XM_005258604.3:c.638C>T | XP_005258661.1:p.Thr213Met | |
| NM_001039876.3:c.638C>T MANE Select | NP_001034965.1:p.Thr213Met | |
| NM_001297735.3:c.299C>T | NP_001284664.1:p.Thr100Met |