Linked Data
ClinVar Variation Id:
204999
ClinVar RCV Id:
RCV000540333
dbSNP Id:
rs773450609
ExAC:
20:61981343 G / A
gnomAD v2:
20-61981343-G-A
gnomAD v3:
20-63349991-G-A
gnomAD v4:
20-63349991-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63349991G>A , CM000682.2:g.63349991G>A | GRCh38 |
| NC_000020.10:g.61981343G>A , CM000682.1:g.61981343G>A | GRCh37 |
| NC_000020.9:g.61451787G>A | NCBI36 |
| NG_011931.1:g.16353C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.1420C>T MANE Select | ENSP00000359285.4:p.Pro474Ser | |
| ENST00000370263.8:c.1420C>T | ENSP00000359285.4:p.Pro474Ser | |
| ENST00000463705.5:n.2068C>T | ||
| ENST00000467563.3:n.1490C>T | ||
| ENST00000498043.6:c.1444C>T | ||
| ENST00000615287.4:c.1207C>T | ENSP00000483388.1:p.Pro403Ser | |
| ENST00000627000.1:c.*1109C>T | ENSP00000486914.1:n.*1109C>T | |
| ENST00000630240.1:n.1141C>T | ||
| NM_000744.6:c.1420C>T | NP_000735.1:p.Pro474Ser | |
| NM_001256573.1:c.892C>T | NP_001243502.1:p.Pro298Ser | |
| NR_046317.1:n.1676C>T | ||
| XM_011528524.1:c.1207C>T | XP_011526826.1:p.Pro403Ser | |
| XM_017027625.2:c.892C>T | XP_016883114.1:p.Pro298Ser | |
| XM_024451822.1:c.892C>T | XP_024307590.1:p.Pro298Ser | |
| NM_001256573.2:c.892C>T | NP_001243502.1:p.Pro298Ser | |
| NR_046317.2:n.1629C>T | ||
| NM_000744.7:c.1420C>T MANE Select | NP_000735.1:p.Pro474Ser |