Linked Data
ClinVar Variation Id:
283710
dbSNP Id:
rs886042688
gnomAD v2:
21-47422475-T-C
gnomAD v4:
21-46002561-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46002561T>C , CM000683.2:g.46002561T>C | GRCh38 |
| NC_000021.8:g.47422475T>C , CM000683.1:g.47422475T>C | GRCh37 |
| NC_000021.7:g.46246903T>C | NCBI36 |
| NG_008674.1:g.25813T>C , LRG_475:g.25813T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.684T>C | ||
| ENST00000612273.2:c.411T>C | ||
| ENST00000682634.1:c.411T>C | ||
| ENST00000361866.8:c.2285T>C MANE Select | ENSP00000355180.3:p.Phe762Ser | |
| ENST00000361866.7:c.2285T>C | ENSP00000355180.3:p.Phe762Ser | |
| ENST00000463060.5:n.684T>C | ||
| ENST00000486023.1:n.73T>C | ||
| ENST00000498614.5:n.519T>C | ||
| ENST00000612273.1:c.2279T>C | ENSP00000483630.1:p.Phe760Ser | |
| NM_001848.2:c.2285T>C , LRG_475t1:c.2285T>C | NP_001839.2:p.Phe762Ser | |
| NM_001848.3:c.2285T>C MANE Select | NP_001839.2:p.Phe762Ser |