Linked Data
ClinVar Variation Id:
1346502
ClinVar RCV Id:
RCV002030049
dbSNP Id:
rs768744096
ExAC:
3:196214334 C / T
gnomAD v2:
3-196214334-C-T
gnomAD v3:
3-196487463-C-T
gnomAD v4:
3-196487463-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.196487463C>T , CM000665.2:g.196487463C>T | GRCh38 |
| NC_000003.11:g.196214334C>T , CM000665.1:g.196214334C>T | GRCh37 |
| NC_000003.10:g.197698731C>T | NCBI36 |
| NG_023425.1:g.21306G>A , LRG_185:g.21306G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318037.3:c.494G>A MANE Select | ENSP00000320898.3:p.Arg165Gln | |
| ENST00000437070.1:c.*66G>A | ENSP00000396712.1:n.*66G>A | |
| NM_152617.3:c.494G>A , LRG_185t1:c.494G>A | NP_689830.2:p.Arg165Gln | |
| NM_152617.4:c.494G>A MANE Select | NP_689830.2:p.Arg165Gln |