Linked Data
ClinVar Variation Id:
142082
dbSNP Id:
rs200472836
ExAC:
5:131911608 T / C
gnomAD v2:
5-131911608-T-C
gnomAD v3:
5-132575916-T-C
gnomAD v4:
5-132575916-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132575916T>C , CM000667.2:g.132575916T>C | GRCh38 |
| NC_000005.9:g.131911608T>C , CM000667.1:g.131911608T>C | GRCh37 |
| NC_000005.8:g.131939507T>C | NCBI36 |
| NG_021151.1:g.23993T>C | |
| NG_021151.2:g.23940T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.353T>C MANE Select | ENSP00000368100.4:p.Ile118Thr | |
| ENST00000638452.2:c.56T>C | ENSP00000492349.2:p.Ile19Thr | |
| ENST00000638504.1:n.430T>C | ||
| ENST00000638568.2:c.56T>C | ENSP00000491158.2:p.Ile19Thr | |
| ENST00000639899.1:n.513T>C | ||
| ENST00000640655.2:c.56T>C | ENSP00000491596.2:p.Ile19Thr | |
| ENST00000651160.1:c.353T>C | ENSP00000498829.1:p.Ile118Thr | |
| ENST00000651541.1:c.56T>C | ENSP00000498795.1:p.Ile19Thr | |
| ENST00000651658.1:n.421T>C | ||
| ENST00000651723.1:c.*448+53T>C | ENSP00000498237.1:n.*448+53T>C | |
| ENST00000652016.1:c.353T>C | ENSP00000498267.1:p.Ile118Thr | |
| ENST00000652485.1:c.353T>C | ENSP00000498973.1:p.Ile118Thr | |
| ENST00000378823.7:c.353T>C | ENSP00000368100.4:p.Ile118Thr | |
| ENST00000416135.5:c.56T>C | ENSP00000389515.1:p.Ile19Thr | |
| ENST00000423956.5:c.353T>C | ENSP00000390971.1:p.Ile118Thr | |
| ENST00000453394.5:c.353T>C | ENSP00000400049.1:p.Ile118Thr | |
| ENST00000533482.5:c.300+53T>C | ENSP00000431225.1:n.300+53T>C | |
| NM_005732.3:c.353T>C | NP_005723.2:p.Ile118Thr | |
| NM_005732.4:c.353T>C MANE Select | NP_005723.2:p.Ile118Thr |