Linked Data
ClinVar Variation Id:
369253
ClinVar RCV Id:
RCV000388894
dbSNP Id:
rs12454908
gnomAD v2:
18-9134354-C-G
gnomAD v3:
18-9134356-C-G
gnomAD v4:
18-9134356-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.9134356C>G , CM000680.2:g.9134356C>G | GRCh38 |
| NC_000018.9:g.9134354C>G , CM000680.1:g.9134354C>G | GRCh37 |
| NC_000018.8:g.9124354C>G | NCBI36 |
| NG_013355.1:g.36727C>G | |
| NG_047134.1:g.2604C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_110771.1:n.358-846G>C | ||
| NR_110772.1:n.358-846G>C |