Linked Data
ClinVar Variation Id:
849844
ClinVar RCV Id:
RCV001053888
dbSNP Id:
rs773010488
ExAC:
1:229568012 C / T
gnomAD v2:
1-229568012-C-T
gnomAD v3:
1-229432265-C-T
gnomAD v4:
1-229432265-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432265C>T , CM000663.2:g.229432265C>T | GRCh38 |
| NC_000001.10:g.229568012C>T , CM000663.1:g.229568012C>T | GRCh37 |
| NC_000001.9:g.227634635C>T | NCBI36 |
| NG_006672.1:g.6832G>A , LRG_429:g.6832G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366683.4:c.616+5G>A | ENSP00000355644.4:n.616+5G>A | |
| ENST00000684723.1:c.481+5G>A | ENSP00000508084.1:n.481+5G>A | |
| ENST00000366683.3:c.479+142G>A | ENSP00000355644.3:n.479+142G>A | |
| ENST00000366684.7:c.616+5G>A MANE Select | ENSP00000355645.3:n.616+5G>A | |
| NM_001100.3:c.616+5G>A , LRG_429t1:c.616+5G>A | NP_001091.1:n.616+5G>A | |
| NM_001100.4:c.616+5G>A MANE Select | NP_001091.1:n.616+5G>A |