Linked Data
ClinVar Variation Id:
163856
ClinVar RCV Id:
RCV000150932
dbSNP Id:
rs727503133
gnomAD v4:
6-35805884-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35805884G>A , CM000668.2:g.35805884G>A | GRCh38 |
| NC_000006.11:g.35773661G>A , CM000668.1:g.35773661G>A | GRCh37 |
| NC_000006.10:g.35881639G>A | NCBI36 |
| NG_012184.1:g.5591G>A | |
| NG_012184.2:g.5591G>A | |
| NG_012184.3:g.13679G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.214G>A MANE Select | ENSP00000353346.1:p.Val72Met | |
| ENST00000651132.1:c.214G>A | ENSP00000498322.1:p.Val72Met | |
| ENST00000651676.1:c.214G>A | ENSP00000498699.1:p.Val72Met | |
| ENST00000651994.1:c.214G>A | ENSP00000498310.1:p.Val72Met | |
| ENST00000652718.1:c.46G>A | ENSP00000498866.1:p.Val16Met | |
| ENST00000360215.2:c.214G>A | ENSP00000353346.1:p.Val72Met | |
| NM_182548.3:c.214G>A | NP_872354.1:p.Val72Met | |
| XM_011514403.1:c.214G>A | XP_011512705.1:p.Val72Met | |
| NM_182548.4:c.214G>A MANE Select | NP_872354.1:p.Val72Met |