Linked Data
ClinVar Variation Id:
543536
dbSNP Id:
rs202140852
ExAC:
20:61981680 C / T
gnomAD v2:
20-61981680-C-T
gnomAD v3:
20-63350328-C-T
gnomAD v4:
20-63350328-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63350328C>T , CM000682.2:g.63350328C>T | GRCh38 |
| NC_000020.10:g.61981680C>T , CM000682.1:g.61981680C>T | GRCh37 |
| NC_000020.9:g.61452124C>T | NCBI36 |
| NG_011931.1:g.16016G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.1083G>A MANE Select | ENSP00000359285.4:p.Pro361= | |
| ENST00000370263.8:c.1083G>A | ENSP00000359285.4:p.Pro361= | |
| ENST00000463705.5:n.1731G>A | ||
| ENST00000467563.3:n.1153G>A | ||
| ENST00000498043.6:c.1107G>A | ||
| ENST00000615287.4:c.870G>A | ENSP00000483388.1:p.Pro290= | |
| ENST00000627000.1:c.*772G>A | ENSP00000486914.1:n.*772G>A | |
| ENST00000630240.1:n.804G>A | ||
| NM_000744.6:c.1083G>A | NP_000735.1:p.Pro361= | |
| NM_001256573.1:c.555G>A | NP_001243502.1:p.Pro185= | |
| NR_046317.1:n.1339G>A | ||
| XM_011528524.1:c.870G>A | XP_011526826.1:p.Pro290= | |
| XM_017027625.2:c.555G>A | XP_016883114.1:p.Pro185= | |
| XM_024451822.1:c.555G>A | XP_024307590.1:p.Pro185= | |
| NM_001256573.2:c.555G>A | NP_001243502.1:p.Pro185= | |
| NR_046317.2:n.1292G>A | ||
| NM_000744.7:c.1083G>A MANE Select | NP_000735.1:p.Pro361= |