Linked Data
ClinVar Variation Id:
338876
ClinVar RCV Id:
RCV001618597
dbSNP Id:
rs1042523
ExAC:
20:56137807 A / G
gnomAD v2:
20-56137807-A-G
gnomAD v3:
20-57562751-A-G
gnomAD v4:
20-57562751-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562751A>G , CM000682.2:g.57562751A>G | GRCh38 |
| NC_000020.10:g.56137807A>G , CM000682.1:g.56137807A>G | GRCh37 |
| NC_000020.9:g.55571213A>G | NCBI36 |
| NG_008205.1:g.6671A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000319441.6:c.462A>G MANE Select | ENSP00000319814.4:p.Ser154= | |
| ENST00000319441.5:c.462A>G | ENSP00000319814.4:p.Ser154= | |
| ENST00000467047.1:n.1672A>G | ||
| ENST00000498194.1:n.404A>G | ||
| NM_002591.3:c.462A>G | NP_002582.3:p.Ser154= | |
| XM_011528839.1:c.66A>G | XP_011527141.1:p.Ser22= | |
| XM_024451888.1:c.66A>G | XP_024307656.1:p.Ser22= | |
| NM_002591.4:c.462A>G MANE Select | NP_002582.3:p.Ser154= |