Linked Data
dbSNP Id:
rs2277862
ExAC:
20:34152782 C / T
gnomAD v2:
20-34152782-C-T
gnomAD v3:
20-35564866-C-T
gnomAD v4:
20-35564866-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35564866C>T , CM000682.2:g.35564866C>T | GRCh38 |
| NC_000020.10:g.34152782C>T , CM000682.1:g.34152782C>T | GRCh37 |
| NC_000020.9:g.33616196C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000674340.1:n.2026G>A | ||
| ENST00000674470.1:n.1353G>A | ||
| ENST00000611673.4:n.1047G>A | ||
| ENST00000613061.4:n.1397G>A | ||
| ENST00000615531.4:n.4562G>A | ||
| ENST00000616711.4:n.1711G>A | ||
| ENST00000621044.4:n.675G>A | ||
| NR_119376.1:n.4574G>A |