Linked Data
ClinVar Variation Id:
1950381
ClinVar RCV Id:
RCV002671749
dbSNP Id:
rs1247427505
gnomAD v2:
3-164786893-C-A
gnomAD v4:
3-165069105-C-A
COSMIC:
COSM729339
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165069105C>A , CM000665.2:g.165069105C>A | GRCh38 |
| NC_000003.11:g.164786893C>A , CM000665.1:g.164786893C>A | GRCh37 |
| NC_000003.10:g.166269587C>A | NCBI36 |
| NG_017043.1:g.14391G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264382.8:c.346G>T MANE Select | ENSP00000264382.3:p.Val116Phe | |
| ENST00000264382.7:c.346G>T | ENSP00000264382.3:p.Val116Phe | |
| ENST00000476593.1:c.*221G>T | ENSP00000419450.1:n.*221G>T | |
| NM_001041.3:c.346G>T | NP_001032.2:p.Val116Phe | |
| XM_011513078.1:c.247G>T | XP_011511380.1:p.Val83Phe | |
| XM_011513078.2:c.247G>T | XP_011511380.1:p.Val83Phe | |
| NM_001041.4:c.346G>T MANE Select | NP_001032.2:p.Val116Phe |