Linked Data
ClinVar Variation Id:
1533572
ClinVar RCV Id:
RCV002071362
dbSNP Id:
rs751644989
ExAC:
11:5247759 C / G
gnomAD v2:
11-5247759-C-G
gnomAD v4:
11-5226529-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226529C>G , CM000673.2:g.5226529C>G | GRCh38 |
| NC_000011.9:g.5247759C>G , CM000673.1:g.5247759C>G | GRCh37 |
| NC_000011.8:g.5204335C>G | NCBI36 |
| NG_000007.3:g.71087G>C | |
| NG_059281.1:g.5543G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.315+48G>C | ENSP00000494175.1:n.315+48G>C | |
| ENST00000335295.4:c.315+48G>C MANE Select | ENSP00000333994.3:n.315+48G>C | |
| ENST00000475226.1:n.247+48G>C | ||
| ENST00000485743.1:n.414G>C | ||
| ENST00000633227.1:c.*131+48G>C | ENSP00000488004.1:n.*131+48G>C | |
| NM_000518.4:c.315+48G>C | NP_000509.1:n.315+48G>C | |
| NM_000518.5:c.315+48G>C MANE Select | NP_000509.1:n.315+48G>C |