Linked Data
ClinVar Variation Id:
3200707
ClinVar RCV Id:
RCV004495590
dbSNP Id:
rs1979300934
gnomAD v3:
19-55955438-C-G
gnomAD v4:
19-55955438-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55955438C>G , CM000681.2:g.55955438C>G | GRCh38 |
| NC_000019.9:g.56466804C>G , CM000681.1:g.56466804C>G | GRCh37 |
| NC_000019.8:g.61158616C>G | NCBI36 |
| NG_051553.1:g.12607C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291971.7:c.1380C>G MANE Select | ENSP00000291971.3:p.Asp460Glu | |
| ENST00000590542.1:c.1380C>G | ENSP00000468121.1:p.Asp460Glu | |
| NM_001317000.1:c.1380C>G | NP_001303929.1:p.Asp460Glu | |
| NM_176811.2:c.1380C>G MANE Select | NP_789781.2:p.Asp460Glu |