Linked Data
dbSNP Id:
rs1276318364
gnomAD v2:
20-34152794-G-C
gnomAD v3:
20-35564878-G-C
gnomAD v4:
20-35564878-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35564878G>C , CM000682.2:g.35564878G>C | GRCh38 |
| NC_000020.10:g.34152794G>C , CM000682.1:g.34152794G>C | GRCh37 |
| NC_000020.9:g.33616208G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674340.1:n.2014C>G | ||
| ENST00000674470.1:n.1341C>G | ||
| ENST00000611673.4:n.1035C>G | ||
| ENST00000613061.4:n.1385C>G | ||
| ENST00000615531.4:n.4550C>G | ||
| ENST00000616711.4:n.1699C>G | ||
| ENST00000621044.4:n.663C>G | ||
| NR_119376.1:n.4562C>G |