Linked Data
dbSNP Id:
rs759794138
ExAC:
4:69536204 C / A
gnomAD v2:
4-69536204-C-A
gnomAD v4:
4-68670486-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68670486C>A , CM000666.2:g.68670486C>A | GRCh38 |
| NC_000004.11:g.69536204C>A , CM000666.1:g.69536204C>A | GRCh37 |
| NC_000004.10:g.69218799C>A | NCBI36 |
| NG_052676.1:g.5291G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.133G>T MANE Select | ENSP00000341045.5:p.Glu45Ter | |
| ENST00000338206.5:c.133G>T | ENSP00000341045.5:p.Glu45Ter | |
| ENST00000616841.4:c.133G>T | ENSP00000482004.1:p.Glu45Ter | |
| NM_001076.3:c.133G>T | NP_001067.2:p.Glu45Ter | |
| NM_001076.4:c.133G>T MANE Select | NP_001067.2:p.Glu45Ter |