Linked Data
ClinVar Variation Id:
293227
dbSNP Id:
rs142780305
ExAC:
1:160251925 A / C
gnomAD v2:
1-160251925-A-C
gnomAD v3:
1-160282135-A-C
gnomAD v4:
1-160282135-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160282135A>C , CM000663.2:g.160282135A>C | GRCh38 |
| NC_000001.10:g.160251925A>C , CM000663.1:g.160251925A>C | GRCh37 |
| NC_000001.9:g.158518549A>C | NCBI36 |
| NG_008637.1:g.8017T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368072.10:c.498T>G MANE Select | ENSP00000357051.5:p.Asp166Glu | |
| ENST00000556710.6:c.*179T>G | ENSP00000451235.2:n.*179T>G | |
| ENST00000368072.9:c.498T>G | ENSP00000357051.5:p.Asp166Glu | |
| ENST00000392220.2:c.438T>G | ENSP00000376054.2:p.Asp146Glu | |
| ENST00000462644.5:c.352T>G | ENSP00000435896.1:p.Trp118Gly | |
| ENST00000472750.5:c.*265T>G | ENSP00000434633.1:n.*265T>G | |
| ENST00000485079.1:c.108T>G | ENSP00000450870.1:p.Asp36Glu | |
| ENST00000495624.1:c.10T>G | ||
| ENST00000532508.5:n.470T>G | ||
| ENST00000532516.1:n.385T>G | ||
| ENST00000532643.5:c.412T>G | ENSP00000435915.1:p.Trp138Gly | |
| ENST00000533104.1:n.515T>G | ||
| ENST00000533699.5:n.492T>G | ||
| ENST00000556710.5:c.57T>G | ENSP00000451235.1:p.Asp19Glu | |
| NM_001193644.1:c.498T>G | NP_001180573.1:p.Asp166Glu | |
| NM_002857.3:c.498T>G | NP_002848.1:p.Asp166Glu | |
| NR_036492.1:n.415T>G | ||
| NR_036493.1:n.439T>G | ||
| NM_002857.4:c.498T>G MANE Select | NP_002848.1:p.Asp166Glu | |
| NR_036492.2:n.397T>G | ||
| NR_036493.2:n.421T>G |