Linked Data
dbSNP Id:
rs774575614
ExAC:
20:56137909 G / A
gnomAD v2:
20-56137909-G-A
gnomAD v3:
20-57562853-G-A
gnomAD v4:
20-57562853-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562853G>A , CM000682.2:g.57562853G>A | GRCh38 |
| NC_000020.10:g.56137909G>A , CM000682.1:g.56137909G>A | GRCh37 |
| NC_000020.9:g.55571315G>A | NCBI36 |
| NG_008205.1:g.6773G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.564G>A MANE Select | ENSP00000319814.4:p.Glu188= | |
| ENST00000319441.5:c.564G>A | ENSP00000319814.4:p.Glu188= | |
| ENST00000467047.1:n.1774G>A | ||
| ENST00000470051.1:n.20G>A | ||
| ENST00000498194.1:n.506G>A | ||
| NM_002591.3:c.564G>A | NP_002582.3:p.Glu188= | |
| XM_011528839.1:c.168G>A | XP_011527141.1:p.Glu56= | |
| XM_024451888.1:c.168G>A | XP_024307656.1:p.Glu56= | |
| NM_002591.4:c.564G>A MANE Select | NP_002582.3:p.Glu188= |