Linked Data
ClinVar Variation Id:
1382087
ClinVar RCV Id:
RCV001897397
dbSNP Id:
rs2113314313
gnomAD v4:
5-178982921-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178982921A>T , CM000667.2:g.178982921A>T | GRCh38 |
| NC_000005.9:g.178409922A>T , CM000667.1:g.178409922A>T | GRCh37 |
| NC_000005.8:g.178342528A>T | NCBI36 |
| NG_008105.1:g.17203T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517717.3:c.2425T>A MANE Select | ENSP00000430767.1:p.Ser809Thr | |
| ENST00000650031.1:c.2425T>A | ENSP00000497110.1:p.Ser809Thr | |
| ENST00000650488.1:n.1148T>A | ||
| ENST00000231188.9:c.2425T>A | ENSP00000231188.5:p.Ser809Thr | |
| ENST00000517717.1:c.2425T>A | ENSP00000430767.1:p.Ser809Thr | |
| ENST00000519003.1:n.424T>A | ||
| NM_000843.3:c.2425T>A | NP_000834.2:p.Ser809Thr | |
| XR_941310.1:n.1470-6826A>T | ||
| NM_000843.4:c.2425T>A MANE Select | NP_000834.2:p.Ser809Thr |