Linked Data
ClinVar Variation Id:
3187957
ClinVar RCV Id:
RCV004477800
dbSNP Id:
rs139278478
ExAC:
8:117783855 T / C
gnomAD v2:
8-117783855-T-C
gnomAD v3:
8-116771616-T-C
gnomAD v4:
8-116771616-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.116771616T>C , CM000670.2:g.116771616T>C | GRCh38 |
| NC_000008.10:g.117783855T>C , CM000670.1:g.117783855T>C | GRCh37 |
| NC_000008.9:g.117853036T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309822.7:c.524T>C MANE Select | ENSP00000308332.2:p.Ile175Thr | |
| ENST00000309822.6:c.524T>C | ENSP00000308332.2:p.Ile175Thr | |
| ENST00000517814.1:c.363+1250T>C | ENSP00000429962.1:n.363+1250T>C | |
| ENST00000517820.1:c.188+4825T>C | ENSP00000427767.1:n.188+4825T>C | |
| ENST00000520733.5:c.45+1250T>C | ENSP00000429384.1:n.45+1250T>C | |
| ENST00000521071.1:c.188+4825T>C | ENSP00000430029.1:n.188+4825T>C | |
| ENST00000521703.5:c.188+4825T>C | ENSP00000428455.1:n.188+4825T>C | |
| ENST00000521974.1:n.430T>C | ||
| ENST00000524128.1:c.45+1250T>C | ENSP00000430309.1:n.45+1250T>C | |
| NM_032334.2:c.524T>C | NP_115710.2:p.Ile175Thr | |
| XM_005251080.2:c.363+1250T>C | XP_005251137.2:n.363+1250T>C | |
| XR_928356.1:n.411+1250T>C | ||
| XR_928357.1:n.411+1250T>C | ||
| NM_032334.3:c.524T>C MANE Select | NP_115710.2:p.Ile175Thr |