Linked Data
ClinVar Variation Id:
857384
dbSNP Id:
rs1044396
ExAC:
20:61981134 G / C
gnomAD v2:
20-61981134-G-C
gnomAD v3:
20-63349782-G-C
gnomAD v4:
20-63349782-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63349782G>C , CM000682.2:g.63349782G>C | GRCh38 |
| NC_000020.10:g.61981134G>C , CM000682.1:g.61981134G>C | GRCh37 |
| NC_000020.9:g.61451578G>C | NCBI36 |
| NG_011931.1:g.16562C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370263.9:c.1629C>G MANE Select | ENSP00000359285.4:p.Ser543Arg | |
| ENST00000370263.8:c.1629C>G | ENSP00000359285.4:p.Ser543Arg | |
| ENST00000463705.5:n.2277C>G | ||
| ENST00000467563.3:n.1699C>G | ||
| ENST00000498043.6:c.1653C>G | ||
| ENST00000615287.4:c.1416C>G | ENSP00000483388.1:p.Ser472Arg | |
| ENST00000627000.1:c.*1318C>G | ENSP00000486914.1:n.*1318C>G | |
| ENST00000630240.1:n.1350C>G | ||
| NM_000744.6:c.1629C>G | NP_000735.1:p.Ser543Arg | |
| NM_001256573.1:c.1101C>G | NP_001243502.1:p.Ser367Arg | |
| NR_046317.1:n.1885C>G | ||
| XM_011528524.1:c.1416C>G | XP_011526826.1:p.Ser472Arg | |
| XM_017027625.2:c.1101C>G | XP_016883114.1:p.Ser367Arg | |
| XM_024451822.1:c.1101C>G | XP_024307590.1:p.Ser367Arg | |
| NM_001256573.2:c.1101C>G | NP_001243502.1:p.Ser367Arg | |
| NR_046317.2:n.1838C>G | ||
| NM_000744.7:c.1629C>G MANE Select | NP_000735.1:p.Ser543Arg |