Linked Data
ClinVar Variation Id:
1436647
ClinVar RCV Id:
RCV001931682
dbSNP Id:
rs755587413
ExAC:
11:36614967 A / G
gnomAD v2:
11-36614967-A-G
gnomAD v3:
11-36593417-A-G
gnomAD v4:
11-36593417-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36593417A>G , CM000673.2:g.36593417A>G | GRCh38 |
| NC_000011.9:g.36614967A>G , CM000673.1:g.36614967A>G | GRCh37 |
| NC_000011.8:g.36571543A>G | NCBI36 |
| NG_007573.1:g.9820T>C , LRG_99:g.9820T>C | |
| NG_033154.1:g.3925A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527033.6:c.752T>C | ENSP00000436895.2:p.Val251Ala | |
| ENST00000529083.2:c.752T>C | ENSP00000436327.2:p.Val251Ala | |
| ENST00000532616.2:c.752T>C | ENSP00000432174.2:p.Val251Ala | |
| ENST00000311485.8:c.752T>C MANE Select | ENSP00000308620.4:p.Val251Ala | |
| ENST00000311485.7:c.752T>C | ENSP00000308620.3:p.Val251Ala | |
| ENST00000524423.1:n.131+4685T>C | ||
| ENST00000618712.4:c.752T>C | ENSP00000478672.1:p.Val251Ala | |
| NM_000536.3:c.752T>C | NP_000527.2:p.Val251Ala | |
| NM_001243785.1:c.752T>C | NP_001230714.1:p.Val251Ala | |
| NM_001243786.1:c.752T>C | NP_001230715.1:p.Val251Ala | |
| NM_000536.4:c.752T>C MANE Select | NP_000527.2:p.Val251Ala | |
| NM_001243785.2:c.752T>C | NP_001230714.1:p.Val251Ala | |
| NM_001243786.2:c.752T>C | NP_001230715.1:p.Val251Ala |