Linked Data
ClinVar Variation Id:
320213
ClinVar RCV Id:
RCV000356119
dbSNP Id:
rs74674351
gnomAD v2:
16-68678884-G-C
gnomAD v3:
16-68644981-G-C
gnomAD v4:
16-68644981-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68644981G>C , CM000678.2:g.68644981G>C | GRCh38 |
| NC_000016.9:g.68678884G>C , CM000678.1:g.68678884G>C | GRCh37 |
| NC_000016.8:g.67236385G>C | NCBI36 |
| NG_009096.1:g.5734G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264012.8:c.-399G>C | ENSP00000264012.4:n.-399G>C | |
| ENST00000565453.1:n.223-28G>C | ||
| NM_001793.4:c.-399G>C | NP_001784.2:n.-399G>C | |
| XM_011522800.1:c.-399G>C | XP_011521102.1:n.-399G>C | |
| NM_001317195.1:c.-399G>C | NP_001304124.1:n.-399G>C | |
| NM_001317196.1:c.-449G>C | NP_001304125.1:n.-449G>C | |
| NM_001793.5:c.-399G>C | NP_001784.2:n.-399G>C | |
| XM_011522800.3:c.-399G>C | XP_011521102.1:n.-399G>C |