Linked Data
ClinVar Variation Id:
2763642
ClinVar RCV Id:
RCV003565199
dbSNP Id:
rs778024258
gnomAD v2:
17-39740596-G-T
gnomAD v4:
17-41584344-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584344G>T , CM000679.2:g.41584344G>T | GRCh38 |
| NC_000017.10:g.39740596G>T , CM000679.1:g.39740596G>T | GRCh37 |
| NC_000017.9:g.36994122G>T | NCBI36 |
| NG_008624.1:g.7552C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.678C>A MANE Select | ENSP00000167586.6:p.Asp226Glu | |
| ENST00000167586.6:c.678C>A | ENSP00000167586.6:p.Asp226Glu | |
| ENST00000476662.1:n.128C>A | ||
| NM_000526.4:c.678C>A | NP_000517.2:p.Asp226Glu | |
| NM_000526.5:c.678C>A MANE Select | NP_000517.3:p.Asp226Glu |