Linked Data
ClinVar Variation Id:
806377
ClinVar RCV Id:
RCV000994278
dbSNP Id:
rs112919437
gnomAD v4:
1-229432433-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432433T>C , CM000663.2:g.229432433T>C | GRCh38 |
| NC_000001.10:g.229568180T>C , CM000663.1:g.229568180T>C | GRCh37 |
| NC_000001.9:g.227634803T>C | NCBI36 |
| NG_006672.1:g.6664A>G , LRG_429:g.6664A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.455-2A>G | ENSP00000355644.4:n.455-2A>G | |
| ENST00000684723.1:c.320-2A>G | ENSP00000508084.1:n.320-2A>G | |
| ENST00000366683.3:c.455-2A>G | ENSP00000355644.3:n.455-2A>G | |
| ENST00000366684.7:c.455-2A>G MANE Select | ENSP00000355645.3:n.455-2A>G | |
| NM_001100.3:c.455-2A>G , LRG_429t1:c.455-2A>G | NP_001091.1:n.455-2A>G | |
| NM_001100.4:c.455-2A>G MANE Select | NP_001091.1:n.455-2A>G |