Linked Data
ClinVar Variation Id:
284468
dbSNP Id:
rs794727615
gnomAD v3:
15-42387787-T-C
gnomAD v4:
15-42387787-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42387787T>C , CM000677.2:g.42387787T>C | GRCh38 |
| NC_000015.9:g.42679985T>C , CM000677.1:g.42679985T>C | GRCh37 |
| NC_000015.8:g.40467277T>C | NCBI36 |
| NG_008660.1:g.44685T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349748.8:c.533T>C | ENSP00000183936.4:p.Ile178Thr | |
| ENST00000357568.8:c.533T>C | ENSP00000350181.3:p.Ile178Thr | |
| ENST00000397163.8:c.533T>C MANE Select | ENSP00000380349.3:p.Ile178Thr | |
| ENST00000466369.5:n.1042T>C | ||
| ENST00000483208.5:n.764T>C | ||
| ENST00000495723.1:n.764T>C | ||
| ENST00000549793.5:n.764T>C | ||
| ENST00000638141.2:n.548T>C | ||
| ENST00000673705.1:c.70+3235T>C | ENSP00000501021.1:n.70+3235T>C | |
| ENST00000318023.11:c.533T>C | ENSP00000326281.8:p.Ile178Thr | |
| ENST00000349748.7:c.533T>C | ENSP00000183936.4:p.Ile178Thr | |
| ENST00000357568.7:c.533T>C | ENSP00000350181.3:p.Ile178Thr | |
| ENST00000397163.7:c.533T>C | ENSP00000380349.3:p.Ile178Thr | |
| NM_000070.2:c.533T>C | NP_000061.1:p.Ile178Thr | |
| NM_024344.1:c.533T>C | NP_077320.1:p.Ile178Thr | |
| NM_173087.1:c.533T>C | NP_775110.1:p.Ile178Thr | |
| NM_000070.3:c.533T>C MANE Select | NP_000061.1:p.Ile178Thr | |
| NM_024344.2:c.533T>C | NP_077320.1:p.Ile178Thr | |
| NM_173087.2:c.533T>C | NP_775110.1:p.Ile178Thr |