Linked Data
ClinVar Variation Id:
2068107
ClinVar RCV Id:
RCV002970902
dbSNP Id:
rs200705851
ExAC:
1:229567997 G / T
gnomAD v2:
1-229567997-G-T
gnomAD v3:
1-229432250-G-T
gnomAD v4:
1-229432250-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432250G>T , CM000663.2:g.229432250G>T | GRCh38 |
| NC_000001.10:g.229567997G>T , CM000663.1:g.229567997G>T | GRCh37 |
| NC_000001.9:g.227634620G>T | NCBI36 |
| NG_006672.1:g.6847C>A , LRG_429:g.6847C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366683.4:c.616+20C>A | ENSP00000355644.4:n.616+20C>A | |
| ENST00000684723.1:c.481+20C>A | ENSP00000508084.1:n.481+20C>A | |
| ENST00000366683.3:c.479+157C>A | ENSP00000355644.3:n.479+157C>A | |
| ENST00000366684.7:c.616+20C>A MANE Select | ENSP00000355645.3:n.616+20C>A | |
| NM_001100.3:c.616+20C>A , LRG_429t1:c.616+20C>A | NP_001091.1:n.616+20C>A | |
| NM_001100.4:c.616+20C>A MANE Select | NP_001091.1:n.616+20C>A |