Linked Data
ClinVar Variation Id:
2708360
ClinVar RCV Id:
RCV003583361
dbSNP Id:
rs2068569883
gnomAD v3:
20-63350289-G-A
gnomAD v4:
20-63350289-G-A
COSMIC:
COSM3548967
MyVariant Identifiers:
chr20:g.61981641G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350289G>A , CM000682.2:g.63350289G>A | GRCh38 |
| NC_000020.10:g.61981641G>A , CM000682.1:g.61981641G>A | GRCh37 |
| NC_000020.9:g.61452085G>A | NCBI36 |
| NG_011931.1:g.16055C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.1122C>T MANE Select | ENSP00000359285.4:p.Ser374= | |
| ENST00000370263.8:c.1122C>T | ENSP00000359285.4:p.Ser374= | |
| ENST00000463705.5:n.1770C>T | ||
| ENST00000467563.3:n.1192C>T | ||
| ENST00000498043.6:c.1146C>T | ||
| ENST00000615287.4:c.909C>T | ENSP00000483388.1:p.Ser303= | |
| ENST00000627000.1:c.*811C>T | ENSP00000486914.1:n.*811C>T | |
| ENST00000630240.1:n.843C>T | ||
| NM_000744.6:c.1122C>T | NP_000735.1:p.Ser374= | |
| NM_001256573.1:c.594C>T | NP_001243502.1:p.Ser198= | |
| NR_046317.1:n.1378C>T | ||
| XM_011528524.1:c.909C>T | XP_011526826.1:p.Ser303= | |
| XM_017027625.2:c.594C>T | XP_016883114.1:p.Ser198= | |
| XM_024451822.1:c.594C>T | XP_024307590.1:p.Ser198= | |
| NM_001256573.2:c.594C>T | NP_001243502.1:p.Ser198= | |
| NR_046317.2:n.1331C>T | ||
| NM_000744.7:c.1122C>T MANE Select | NP_000735.1:p.Ser374= |