Linked Data
ClinVar Variation Id:
1981886
ClinVar RCV Id:
RCV002766481
dbSNP Id:
rs751031120
gnomAD v2:
20-44538285-A-C
gnomAD v3:
20-45909646-A-C
gnomAD v4:
20-45909646-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45909646A>C , CM000682.2:g.45909646A>C | GRCh38 |
| NC_000020.10:g.44538285A>C , CM000682.1:g.44538285A>C | GRCh37 |
| NC_000020.9:g.43971692A>C | NCBI36 |
| NG_012115.1:g.7502T>G | |
| NG_012115.2:g.7502T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372431.8:c.355T>G MANE Select | ENSP00000361508.3:p.Ser119Ala | |
| ENST00000354050.8:c.329+296T>G | ENSP00000335290.4:n.329+296T>G | |
| ENST00000372420.5:c.91T>G | ENSP00000361497.1:p.Ser31Ala | |
| ENST00000372431.7:c.355T>G | ENSP00000361508.3:p.Ser119Ala | |
| ENST00000420868.2:c.200+1506T>G | ENSP00000411671.2:n.200+1506T>G | |
| ENST00000477313.5:c.355T>G | ENSP00000417138.1:p.Ser119Ala | |
| NM_001242920.1:c.200+1506T>G | NP_001229849.1:n.200+1506T>G | |
| NM_001242921.1:c.91T>G | NP_001229850.1:p.Ser31Ala | |
| NM_006227.3:c.355T>G | NP_006218.1:p.Ser119Ala | |
| NM_182676.2:c.329+296T>G | NP_872617.1:n.329+296T>G | |
| NM_006227.4:c.355T>G MANE Select | NP_006218.1:p.Ser119Ala | |
| NM_001242920.2:c.200+1506T>G | NP_001229849.1:n.200+1506T>G | |
| NM_182676.3:c.329+296T>G | NP_872617.1:n.329+296T>G |