Linked Data
ClinVar Variation Id:
684539
ClinVar RCV Id:
RCV000845072
dbSNP Id:
rs753759460
ExAC:
19:46269753 G / C
gnomAD v2:
19-46269753-G-C
gnomAD v4:
19-45766495-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45766495G>C , CM000681.2:g.45766495G>C | GRCh38 |
| NC_000019.9:g.46269753G>C , CM000681.1:g.46269753G>C | GRCh37 |
| NC_000019.8:g.50961593G>C | NCBI36 |
| NG_012745.1:g.7745C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.1464C>G MANE Select | ENSP00000316842.4:p.Pro488= | |
| ENST00000317578.6:c.1464C>G | ENSP00000316842.4:p.Pro488= | |
| ENST00000560160.1:c.587-384C>G | ||
| ENST00000560168.1:c.*652C>G | ENSP00000453189.2:n.*652C>G | |
| ENST00000622857.1:c.16-533C>G | ENSP00000481365.1:n.16-533C>G | |
| NM_175875.4:c.1464C>G | NP_787071.2:p.Pro488= | |
| NM_175875.5:c.1464C>G MANE Select | NP_787071.3:p.Pro488= |