Linked Data
ClinVar Variation Id:
2918147
ClinVar RCV Id:
RCV003634351
dbSNP Id:
rs761776635
ExAC:
4:41748277 C / T
gnomAD v2:
4-41748277-C-T
gnomAD v4:
4-41746260-C-T
COSMIC:
COSM4124751
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746260C>T , CM000666.2:g.41746260C>T | GRCh38 |
| NC_000004.11:g.41748277C>T , CM000666.1:g.41748277C>T | GRCh37 |
| NC_000004.10:g.41443034C>T | NCBI36 |
| NG_008243.1:g.7711G>A , LRG_513:g.7711G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.492G>A MANE Select | ENSP00000226382.2:p.Ala164= | |
| ENST00000226382.3:c.492G>A | ENSP00000226382.2:p.Ala164= | |
| ENST00000510424.2:n.313G>A | ||
| NM_003924.3:c.492G>A , LRG_513t1:c.492G>A | NP_003915.2:p.Ala164= | |
| NM_003924.4:c.492G>A MANE Select | NP_003915.2:p.Ala164= |