Linked Data
ClinVar Variation Id:
782323
ClinVar RCV Id:
RCV000963697
dbSNP Id:
rs113191093
ExAC:
19:14157158 C / G
gnomAD v2:
19-14157158-C-G
gnomAD v3:
19-14046346-C-G
gnomAD v4:
19-14046346-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.14046346C>G , CM000681.2:g.14046346C>G | GRCh38 |
| NC_000019.9:g.14157158C>G , CM000681.1:g.14157158C>G | GRCh37 |
| NC_000019.8:g.14018158C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263379.4:c.952+9C>G MANE Select | ENSP00000263379.1:n.952+9C>G | |
| ENST00000263379.3:c.952+9C>G | ENSP00000263379.1:n.952+9C>G | |
| NM_004843.3:c.952+9C>G | NP_004834.1:n.952+9C>G | |
| NM_004843.4:c.952+9C>G MANE Select | NP_004834.1:n.952+9C>G |