Linked Data
ClinVar Variation Id:
2982054
ClinVar RCV Id:
RCV003840636
dbSNP Id:
rs756024442
ExAC:
10:27408211 A / C
gnomAD v2:
10-27408211-A-C
gnomAD v3:
10-27119282-A-C
gnomAD v4:
10-27119282-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27119282A>C , CM000672.2:g.27119282A>C | GRCh38 |
| NC_000010.10:g.27408211A>C , CM000672.1:g.27408211A>C | GRCh37 |
| NC_000010.9:g.27448217A>C | NCBI36 |
| NG_047122.1:g.40997T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376016.8:c.1567+12T>G MANE Select | ENSP00000365184.3:n.1567+12T>G | |
| ENST00000326799.7:c.1738+12T>G | ENSP00000318480.3:n.1738+12T>G | |
| ENST00000375972.7:c.1738+12T>G | ENSP00000365139.4:n.1738+12T>G | |
| ENST00000376016.7:c.1567+12T>G | ENSP00000365184.3:n.1567+12T>G | |
| ENST00000613434.4:c.1468+12T>G | ENSP00000481724.1:n.1468+12T>G | |
| NM_001253866.1:c.1468+12T>G | NP_001240795.1:n.1468+12T>G | |
| NM_014263.3:c.1567+12T>G | NP_055078.1:n.1567+12T>G | |
| NM_139312.2:c.1738+12T>G | NP_647473.1:n.1738+12T>G | |
| XM_011519300.1:c.1639+12T>G | XP_011517602.1:n.1639+12T>G | |
| XM_011519300.3:c.1639+12T>G | XP_011517602.1:n.1639+12T>G | |
| NM_014263.4:c.1567+12T>G MANE Select | NP_055078.1:n.1567+12T>G | |
| NM_139312.3:c.1738+12T>G | NP_647473.1:n.1738+12T>G | |
| NM_001253866.2:c.1468+12T>G | NP_001240795.1:n.1468+12T>G |