Linked Data
ClinVar Variation Id:
769090
ClinVar RCV Id:
RCV000948048
dbSNP Id:
rs1739654
gnomAD v3:
20-38349567-A-G
gnomAD v4:
20-38349567-A-G
MyVariant Identifiers:
chr20:g.38349567A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.38349567A>G , CM000682.2:g.38349567A>G | GRCh38 |
| NG_034239.1:g.8157A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000217407.3:c.144A>G MANE Select | ENSP00000217407.2:p.Leu48= | |
| ENST00000217407.2:c.144A>G | ENSP00000217407.2:p.Leu48= | |
| NM_004139.4:c.144A>G | NP_004130.2:p.Leu48= | |
| NM_004139.5:c.144A>G MANE Select | NP_004130.2:p.Leu48= |