Linked Data
ClinVar Variation Id:
1380489
ClinVar RCV Id:
RCV001917232
dbSNP Id:
rs766993725
ExAC:
20:56137954 A / G
gnomAD v2:
20-56137954-A-G
gnomAD v3:
20-57562898-A-G
gnomAD v4:
20-57562898-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562898A>G , CM000682.2:g.57562898A>G | GRCh38 |
| NC_000020.10:g.56137954A>G , CM000682.1:g.56137954A>G | GRCh37 |
| NC_000020.9:g.55571360A>G | NCBI36 |
| NG_008205.1:g.6818A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.609A>G MANE Select | ENSP00000319814.4:p.Gln203= | |
| ENST00000319441.5:c.609A>G | ENSP00000319814.4:p.Gln203= | |
| ENST00000467047.1:n.1819A>G | ||
| ENST00000470051.1:n.65A>G | ||
| ENST00000498194.1:n.551A>G | ||
| NM_002591.3:c.609A>G | NP_002582.3:p.Gln203= | |
| XM_011528839.1:c.213A>G | XP_011527141.1:p.Gln71= | |
| XM_024451888.1:c.213A>G | XP_024307656.1:p.Gln71= | |
| NM_002591.4:c.609A>G MANE Select | NP_002582.3:p.Gln203= |