Linked Data
ClinVar Variation Id:
2440027
ClinVar RCV Id:
RCV003144927
dbSNP Id:
rs2068554918
gnomAD v4:
20-63349813-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63349813C>G , CM000682.2:g.63349813C>G | GRCh38 |
| NC_000020.10:g.61981165C>G , CM000682.1:g.61981165C>G | GRCh37 |
| NC_000020.9:g.61451609C>G | NCBI36 |
| NG_011931.1:g.16531G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.1598G>C MANE Select | ENSP00000359285.4:p.Cys533Ser | |
| ENST00000370263.8:c.1598G>C | ENSP00000359285.4:p.Cys533Ser | |
| ENST00000463705.5:n.2246G>C | ||
| ENST00000467563.3:n.1668G>C | ||
| ENST00000498043.6:c.1622G>C | ||
| ENST00000615287.4:c.1385G>C | ENSP00000483388.1:p.Cys462Ser | |
| ENST00000627000.1:c.*1287G>C | ENSP00000486914.1:n.*1287G>C | |
| ENST00000630240.1:n.1319G>C | ||
| NM_000744.6:c.1598G>C | NP_000735.1:p.Cys533Ser | |
| NM_001256573.1:c.1070G>C | NP_001243502.1:p.Cys357Ser | |
| NR_046317.1:n.1854G>C | ||
| XM_011528524.1:c.1385G>C | XP_011526826.1:p.Cys462Ser | |
| XM_017027625.2:c.1070G>C | XP_016883114.1:p.Cys357Ser | |
| XM_024451822.1:c.1070G>C | XP_024307590.1:p.Cys357Ser | |
| NM_001256573.2:c.1070G>C | NP_001243502.1:p.Cys357Ser | |
| NR_046317.2:n.1807G>C | ||
| NM_000744.7:c.1598G>C MANE Select | NP_000735.1:p.Cys533Ser |