Linked Data
ClinVar Variation Id:
2321737
ClinVar RCV Id:
RCV004168619
dbSNP Id:
rs1344748200
gnomAD v2:
1-110557391-C-T
gnomAD v3:
1-110014769-C-T
gnomAD v4:
1-110014769-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.110014769C>T , CM000663.2:g.110014769C>T | GRCh38 |
| NC_000001.10:g.110557391C>T , CM000663.1:g.110557391C>T | GRCh37 |
| NC_000001.9:g.110358914C>T | NCBI36 |
| NG_029182.1:g.35006C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369799.10:c.587C>T MANE Select | ENSP00000358814.5:p.Ala196Val | |
| ENST00000359172.3:c.446C>T | ENSP00000352092.3:p.Ala149Val | |
| ENST00000369799.9:c.587C>T | ENSP00000358814.5:p.Ala196Val | |
| ENST00000393614.8:c.446C>T | ENSP00000377238.4:p.Ala149Val | |
| ENST00000475081.1:n.600C>T | ||
| NM_001242673.1:c.446C>T | NP_001229602.1:p.Ala149Val | |
| NM_001242674.1:c.446C>T | NP_001229603.1:p.Ala149Val | |
| NM_001242675.1:c.446C>T | NP_001229604.1:p.Ala149Val | |
| NM_001242676.1:c.446C>T | NP_001229605.1:p.Ala149Val | |
| NM_006621.5:c.587C>T | NP_006612.2:p.Ala196Val | |
| XM_011540535.1:c.587C>T | XP_011538837.1:p.Ala196Val | |
| XR_946527.1:n.899C>T | ||
| XM_011540535.2:c.587C>T | XP_011538837.1:p.Ala196Val | |
| XR_001736934.2:n.589C>T | ||
| XR_001736935.1:n.1045C>T | ||
| XR_946527.2:n.589C>T | ||
| NM_006621.6:c.587C>T | NP_006612.2:p.Ala196Val | |
| NM_001242675.2:c.446C>T | NP_001229604.1:p.Ala149Val | |
| NM_001242676.2:c.446C>T | NP_001229605.1:p.Ala149Val | |
| NM_006621.7:c.587C>T MANE Select | NP_006612.2:p.Ala196Val | |
| NM_001242673.2:c.446C>T | NP_001229602.1:p.Ala149Val | |
| NM_001242674.2:c.446C>T | NP_001229603.1:p.Ala149Val |