Linked Data
ClinVar Variation Id:
126865
ClinVar RCV Id:
RCV000128583
dbSNP Id:
rs2070634
gnomAD v2:
3-186336027-T-G
gnomAD v3:
3-186618238-T-G
gnomAD v4:
3-186618238-T-G
PubMed:
PMID:24886237
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186618238T>G , CM000665.2:g.186618238T>G | GRCh38 |
| NC_000003.11:g.186336027T>G , CM000665.1:g.186336027T>G | GRCh37 |
| NC_000003.10:g.187818721T>G | NCBI36 |
| NG_011436.1:g.10178T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411641.7:c.574-298T>G MANE Select | ENSP00000393887.2:n.574-298T>G | |
| ENST00000273784.5:c.577-298T>G | ENSP00000273784.5:n.577-298T>G | |
| ENST00000411641.6:c.574-298T>G | ENSP00000393887.2:n.574-298T>G | |
| NM_001622.2:c.574-298T>G | NP_001613.2:n.574-298T>G | |
| NM_001354571.1:c.577-298T>G | NP_001341500.1:n.577-298T>G | |
| NM_001354572.1:c.571-298T>G | NP_001341501.1:n.571-298T>G | |
| NM_001354573.1:c.574-298T>G | NP_001341502.1:n.574-298T>G | |
| NM_001622.3:c.574-298T>G | NP_001613.2:n.574-298T>G | |
| NM_001622.4:c.574-298T>G MANE Select | NP_001613.2:n.574-298T>G | |
| NM_001354571.2:c.577-298T>G | NP_001341500.1:n.577-298T>G | |
| NM_001354572.2:c.571-298T>G | NP_001341501.1:n.571-298T>G | |
| NM_001354573.2:c.574-298T>G | NP_001341502.1:n.574-298T>G |