Linked Data
ClinVar Variation Id:
1091888
ClinVar RCV Id:
RCV001411529
dbSNP Id:
rs1565534037
gnomAD v2:
11-64519137-A-C
gnomAD v3:
11-64751665-A-C
gnomAD v4:
11-64751665-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64751665A>C , CM000673.2:g.64751665A>C | GRCh38 |
| NC_000011.9:g.64519137A>C , CM000673.1:g.64519137A>C | GRCh37 |
| NC_000011.8:g.64275713A>C | NCBI36 |
| NG_013018.1:g.14051T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1769-10T>G MANE Select | ENSP00000164139.3:n.1769-10T>G | |
| ENST00000164139.3:c.1769-10T>G | ENSP00000164139.3:n.1769-10T>G | |
| ENST00000377432.7:c.1505-10T>G | ENSP00000366650.3:n.1505-10T>G | |
| ENST00000462303.1:n.93-10T>G | ||
| NM_001164716.1:c.1505-10T>G | NP_001158188.1:n.1505-10T>G | |
| NM_005609.2:c.1769-10T>G | NP_005600.1:n.1769-10T>G | |
| NM_005609.3:c.1769-10T>G | NP_005600.1:n.1769-10T>G | |
| NM_005609.4:c.1769-10T>G MANE Select | NP_005600.1:n.1769-10T>G |