Linked Data
ClinVar Variation Id:
56397
dbSNP Id:
rs386833842
gnomAD v4:
19-35907232-C-A
PubMed:
PMID:17125796
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35907232C>A , CM000681.2:g.35907232C>A | GRCh38 |
| NC_000019.9:g.36398134C>A , CM000681.1:g.36398134C>A | GRCh37 |
| NC_000019.8:g.41089974C>A | NCBI36 |
| NG_009304.1:g.6053G>T , LRG_607:g.6053G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262629.9:c.262G>T MANE Select | ENSP00000262629.3:p.Glu88Ter | |
| ENST00000262629.8:c.262G>T | ENSP00000262629.3:p.Glu88Ter | |
| ENST00000424586.7:c.226G>T | ENSP00000402371.3:p.Glu76Ter | |
| ENST00000544690.6:c.229G>T | ENSP00000445332.1:p.Glu77Ter | |
| ENST00000585901.6:c.355G>T | ENSP00000468608.1:p.Glu119Ter | |
| ENST00000586946.1:c.*144G>T | ENSP00000465656.1:n.*144G>T | |
| ENST00000587837.5:c.*147G>T | ENSP00000465081.1:n.*147G>T | |
| ENST00000588439.1:n.406G>T | ||
| ENST00000589517.1:c.259G>T | ENSP00000468447.1:p.Glu87Ter | |
| NM_001173514.1:c.229G>T | NP_001166985.1:p.Glu77Ter | |
| NM_001173515.1:c.226G>T | NP_001166986.1:p.Glu76Ter | |
| NM_003332.3:c.262G>T , LRG_607t1:c.262G>T | NP_003323.1:p.Glu88Ter | |
| NM_198125.2:c.259G>T | NP_937758.1:p.Glu87Ter | |
| NR_033390.1:n.303G>T | ||
| NM_001173514.2:c.229G>T | NP_001166985.1:p.Glu77Ter | |
| NM_001173515.2:c.226G>T | NP_001166986.1:p.Glu76Ter | |
| NM_003332.4:c.262G>T MANE Select | NP_003323.1:p.Glu88Ter | |
| NM_198125.3:c.259G>T | NP_937758.1:p.Glu87Ter | |
| NR_033390.2:n.289G>T |