Linked Data
ClinVar Variation Id:
166787
dbSNP Id:
rs28364441
ExAC:
15:42684875 C / T
gnomAD v2:
15-42684875-C-T
gnomAD v3:
15-42392677-C-T
gnomAD v4:
15-42392677-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42392677C>T , CM000677.2:g.42392677C>T | GRCh38 |
| NC_000015.9:g.42684875C>T , CM000677.1:g.42684875C>T | GRCh37 |
| NC_000015.8:g.40472167C>T | NCBI36 |
| NG_008660.1:g.49575C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349748.8:c.840C>T | ENSP00000183936.4:p.Cys280= | |
| ENST00000357568.8:c.984C>T | ENSP00000350181.3:p.Cys328= | |
| ENST00000397163.8:c.984C>T MANE Select | ENSP00000380349.3:p.Cys328= | |
| ENST00000466369.5:n.1493C>T | ||
| ENST00000483208.5:n.1215C>T | ||
| ENST00000495723.1:n.1215C>T | ||
| ENST00000549793.5:n.1215C>T | ||
| ENST00000638141.2:n.855C>T | ||
| ENST00000673705.1:c.71-4123C>T | ENSP00000501021.1:n.71-4123C>T | |
| ENST00000318023.11:c.840C>T | ENSP00000326281.8:p.Cys280= | |
| ENST00000349748.7:c.840C>T | ENSP00000183936.4:p.Cys280= | |
| ENST00000357568.7:c.984C>T | ENSP00000350181.3:p.Cys328= | |
| ENST00000397163.7:c.984C>T | ENSP00000380349.3:p.Cys328= | |
| NM_000070.2:c.984C>T | NP_000061.1:p.Cys328= | |
| NM_024344.1:c.984C>T | NP_077320.1:p.Cys328= | |
| NM_173087.1:c.840C>T | NP_775110.1:p.Cys280= | |
| NM_000070.3:c.984C>T MANE Select | NP_000061.1:p.Cys328= | |
| NM_024344.2:c.984C>T | NP_077320.1:p.Cys328= | |
| NM_173087.2:c.840C>T | NP_775110.1:p.Cys280= |