Linked Data
ClinVar Variation Id:
2962571
ClinVar RCV Id:
RCV003827681
dbSNP Id:
rs776183357
ExAC:
20:61982225 C / T
gnomAD v2:
20-61982225-C-T
gnomAD v4:
20-63350873-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350873C>T , CM000682.2:g.63350873C>T | GRCh38 |
| NC_000020.10:g.61982225C>T , CM000682.1:g.61982225C>T | GRCh37 |
| NC_000020.9:g.61452669C>T | NCBI36 |
| NG_011931.1:g.15471G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.538G>A MANE Select | ENSP00000359285.4:p.Gly180Ser | |
| ENST00000370263.8:c.538G>A | ENSP00000359285.4:p.Gly180Ser | |
| ENST00000463705.5:n.1186G>A | ||
| ENST00000467563.3:n.608G>A | ||
| ENST00000498043.6:c.562G>A | ||
| ENST00000615287.4:c.325G>A | ENSP00000483388.1:p.Gly109Ser | |
| ENST00000627000.1:c.*227G>A | ENSP00000486914.1:n.*227G>A | |
| ENST00000630240.1:n.259G>A | ||
| NM_000744.6:c.538G>A | NP_000735.1:p.Gly180Ser | |
| NM_001256573.1:c.10G>A | NP_001243502.1:p.Gly4Ser | |
| NR_046317.1:n.794G>A | ||
| XM_011528524.1:c.325G>A | XP_011526826.1:p.Gly109Ser | |
| XM_017027625.2:c.10G>A | XP_016883114.1:p.Gly4Ser | |
| XM_024451822.1:c.10G>A | XP_024307590.1:p.Gly4Ser | |
| NM_001256573.2:c.10G>A | NP_001243502.1:p.Gly4Ser | |
| NR_046317.2:n.747G>A | ||
| NM_000744.7:c.538G>A MANE Select | NP_000735.1:p.Gly180Ser |