Linked Data
ClinVar Variation Id:
2966342
ClinVar RCV Id:
RCV003820956
dbSNP Id:
rs1018201078
gnomAD v2:
19-46269769-T-G
gnomAD v3:
19-45766511-T-G
gnomAD v4:
19-45766511-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45766511T>G , CM000681.2:g.45766511T>G | GRCh38 |
| NC_000019.9:g.46269769T>G , CM000681.1:g.46269769T>G | GRCh37 |
| NC_000019.8:g.50961609T>G | NCBI36 |
| NG_012745.1:g.7729A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.1448A>C MANE Select | ENSP00000316842.4:p.Gln483Pro | |
| ENST00000317578.6:c.1448A>C | ENSP00000316842.4:p.Gln483Pro | |
| ENST00000560160.1:c.587-400A>C | ||
| ENST00000560168.1:c.*636A>C | ENSP00000453189.2:n.*636A>C | |
| ENST00000622857.1:c.16-549A>C | ENSP00000481365.1:n.16-549A>C | |
| NM_175875.4:c.1448A>C | NP_787071.2:p.Gln483Pro | |
| NM_175875.5:c.1448A>C MANE Select | NP_787071.3:p.Gln483Pro |