Linked Data
ClinVar Variation Id:
1500998
ClinVar RCV Id:
RCV002042701
dbSNP Id:
rs1315617401
gnomAD v2:
20-44536539-C-A
gnomAD v3:
20-45907900-C-A
gnomAD v4:
20-45907900-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45907900C>A , CM000682.2:g.45907900C>A | GRCh38 |
| NC_000020.10:g.44536539C>A , CM000682.1:g.44536539C>A | GRCh37 |
| NC_000020.9:g.43969946C>A | NCBI36 |
| NG_012115.1:g.9248G>T | |
| NG_012115.2:g.9248G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372431.8:c.490G>T MANE Select | ENSP00000361508.3:p.Val164Leu | |
| ENST00000354050.8:c.334G>T | ENSP00000335290.4:p.Val112Leu | |
| ENST00000372420.5:c.226G>T | ENSP00000361497.1:p.Val76Leu | |
| ENST00000372431.7:c.490G>T | ENSP00000361508.3:p.Val164Leu | |
| ENST00000420868.2:c.205G>T | ENSP00000411671.2:p.Val69Leu | |
| ENST00000477313.5:c.490G>T | ENSP00000417138.1:p.Val164Leu | |
| NM_001242920.1:c.205G>T | NP_001229849.1:p.Val69Leu | |
| NM_001242921.1:c.226G>T | NP_001229850.1:p.Val76Leu | |
| NM_006227.3:c.490G>T | NP_006218.1:p.Val164Leu | |
| NM_182676.2:c.334G>T | NP_872617.1:p.Val112Leu | |
| NM_006227.4:c.490G>T MANE Select | NP_006218.1:p.Val164Leu | |
| NM_001242920.2:c.205G>T | NP_001229849.1:p.Val69Leu | |
| NM_182676.3:c.334G>T | NP_872617.1:p.Val112Leu |