Linked Data
ClinVar Variation Id:
2188766
ClinVar RCV Id:
RCV002636625
dbSNP Id:
rs943245509
gnomAD v2:
1-1470818-A-G
gnomAD v3:
1-1535438-A-G
gnomAD v4:
1-1535438-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535438A>G , CM000663.2:g.1535438A>G | GRCh38 |
| NC_000001.10:g.1470818A>G , CM000663.1:g.1470818A>G | GRCh37 |
| NC_000001.9:g.1460681A>G | NCBI36 |
| NG_041807.1:g.9923T>C | |
| NG_053035.1:g.28296A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.443T>C MANE Select | ENSP00000368007.4:p.Phe148Ser | |
| ENST00000378733.8:c.443T>C | ENSP00000368007.4:p.Phe148Ser | |
| ENST00000425828.1:c.443T>C | ENSP00000400311.1:p.Phe148Ser | |
| NM_001114748.1:c.443T>C | NP_001108220.1:p.Phe148Ser | |
| NM_001114748.2:c.443T>C MANE Select | NP_001108220.1:p.Phe148Ser |