Linked Data
ClinVar Variation Id:
162199
dbSNP Id:
rs727502791
ExAC:
12:8800737 G / A
gnomAD v2:
12-8800737-G-A
gnomAD v4:
12-8648141-G-A
PubMed:
PMID:25434006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8648141G>A , CM000674.2:g.8648141G>A | GRCh38 |
| NC_000012.11:g.8800737G>A , CM000674.1:g.8800737G>A | GRCh37 |
| NC_000012.10:g.8692004G>A | NCBI36 |
| NG_041814.1:g.19748C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359478.7:c.472C>T MANE Select | ENSP00000352455.2:p.Arg158Ter | |
| ENST00000359478.6:c.472C>T | ENSP00000352455.2:p.Arg158Ter | |
| ENST00000396549.6:c.442C>T | ENSP00000379798.2:p.Arg148Ter | |
| ENST00000433590.6:c.397C>T | ENSP00000411997.2:p.Arg133Ter | |
| ENST00000535336.5:c.280C>T | ENSP00000438525.1:p.Arg94Ter | |
| ENST00000535411.5:c.441C>T | ||
| ENST00000537009.5:c.*124C>T | ENSP00000439289.1:n.*124C>T | |
| ENST00000538694.5:n.431C>T | ||
| ENST00000540087.5:c.442C>T | ENSP00000440496.1:p.Arg148Ter | |
| ENST00000543369.5:c.406C>T | ENSP00000441492.1:p.Arg136Ter | |
| ENST00000543467.5:c.190C>T | ENSP00000444531.1:p.Arg64Ter | |
| ENST00000544211.5:c.*124C>T | ENSP00000443839.1:n.*124C>T | |
| NM_001297709.1:c.442C>T | NP_001284638.1:p.Arg148Ter | |
| NM_001297710.1:c.406C>T | NP_001284639.1:p.Arg136Ter | |
| NM_001297711.1:c.397C>T | NP_001284640.1:p.Arg133Ter | |
| NM_001297712.1:c.280C>T | NP_001284641.1:p.Arg94Ter | |
| NM_003480.3:c.472C>T | NP_003471.1:p.Arg158Ter | |
| NR_123733.1:n.805C>T | ||
| NR_123734.1:n.775C>T | ||
| NM_003480.4:c.472C>T MANE Select | NP_003471.1:p.Arg158Ter | |
| NM_001297709.2:c.442C>T | NP_001284638.1:p.Arg148Ter | |
| NM_001297710.2:c.406C>T | NP_001284639.1:p.Arg136Ter | |
| NM_001297711.2:c.397C>T | NP_001284640.1:p.Arg133Ter | |
| NM_001297712.2:c.280C>T | NP_001284641.1:p.Arg94Ter | |
| NR_123733.2:n.743C>T | ||
| NR_123734.2:n.713C>T |