Linked Data
ClinVar Variation Id:
3186195
ClinVar RCV Id:
RCV004479593
dbSNP Id:
rs377015117
ExAC:
4:69535816 C / T
gnomAD v2:
4-69535816-C-T
gnomAD v3:
4-68670098-C-T
gnomAD v4:
4-68670098-C-T
COSMIC:
COSM1056875
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68670098C>T , CM000666.2:g.68670098C>T | GRCh38 |
| NC_000004.11:g.69535816C>T , CM000666.1:g.69535816C>T | GRCh37 |
| NC_000004.10:g.69218411C>T | NCBI36 |
| NG_052676.1:g.5679G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.521G>A MANE Select | ENSP00000341045.5:p.Arg174Gln | |
| ENST00000338206.5:c.521G>A | ENSP00000341045.5:p.Arg174Gln | |
| ENST00000616841.4:c.521G>A | ENSP00000482004.1:p.Arg174Gln | |
| NM_001076.3:c.521G>A | NP_001067.2:p.Arg174Gln | |
| NM_001076.4:c.521G>A MANE Select | NP_001067.2:p.Arg174Gln |