Linked Data
ClinVar Variation Id:
307186
dbSNP Id:
rs149024535
ExAC:
12:110784091 C / T
gnomAD v2:
12-110784091-C-T
gnomAD v3:
12-110346286-C-T
gnomAD v4:
12-110346286-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110346286C>T , CM000674.2:g.110346286C>T | GRCh38 |
| NC_000012.11:g.110784091C>T , CM000674.1:g.110784091C>T | GRCh37 |
| NC_000012.10:g.109268474C>T | NCBI36 |
| NG_007097.2:g.69660C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539276.7:c.2945C>T MANE Select | ENSP00000440045.2:p.Thr982Met | |
| ENST00000308664.10:c.2945C>T | ENSP00000311186.6:p.Thr982Met | |
| ENST00000313432.5:n.768C>T | ||
| ENST00000377685.9:c.*2785C>T | ENSP00000366913.4:n.*2785C>T | |
| ENST00000539276.6:c.2945C>T | ENSP00000440045.2:p.Thr982Met | |
| ENST00000548169.2:c.2616C>T | ||
| ENST00000553144.1:c.86C>T | ENSP00000450407.2:p.Thr29Met | |
| NM_001681.3:c.2945C>T | NP_001672.1:p.Thr982Met | |
| NM_170665.3:c.2945C>T | NP_733765.1:p.Thr982Met | |
| XM_005253888.1:c.2945C>T | XP_005253945.1:p.Thr982Met | |
| XM_011538402.1:c.2945C>T | XP_011536704.1:p.Thr982Met | |
| XR_243009.1:n.2951C>T | ||
| XM_005253888.3:c.2945C>T | XP_005253945.1:p.Thr982Met | |
| XM_011538402.3:c.2945C>T | XP_011536704.1:p.Thr982Met | |
| XR_002957329.1:n.2951C>T | ||
| XR_243009.3:n.2951C>T | ||
| NM_170665.4:c.2945C>T MANE Select | NP_733765.1:p.Thr982Met | |
| NM_001681.4:c.2945C>T | NP_001672.1:p.Thr982Met |