Linked Data
ClinVar Variation Id:
376785
ClinVar RCV Id:
RCV000422498
dbSNP Id:
rs1004662085
gnomAD v3:
3-165773514-A-C
gnomAD v4:
3-165773514-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165773514A>C , CM000665.2:g.165773514A>C | GRCh38 |
| NC_000003.11:g.165491302A>C , CM000665.1:g.165491302A>C | GRCh37 |
| NC_000003.10:g.166973996A>C | NCBI36 |
| NG_009031.1:g.68952T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.1685-8T>G MANE Select | ENSP00000264381.3:n.1685-8T>G | |
| ENST00000264381.7:c.1685-8T>G | ENSP00000264381.3:n.1685-8T>G | |
| ENST00000479451.5:c.275-8T>G | ENSP00000418325.1:n.275-8T>G | |
| ENST00000482958.1:c.*191-8T>G | ENSP00000419804.1:n.*191-8T>G | |
| ENST00000497011.5:c.*75-8T>G | ENSP00000419505.1:n.*75-8T>G | |
| NM_000055.2:c.1685-8T>G | NP_000046.1:n.1685-8T>G | |
| XM_005247685.1:c.1808-8T>G | XP_005247742.1:n.1808-8T>G | |
| NM_000055.3:c.1685-8T>G | NP_000046.1:n.1685-8T>G | |
| NR_137635.1:n.327-8T>G | ||
| NR_137636.1:n.1931-8T>G | ||
| NM_000055.4:c.1685-8T>G MANE Select | NP_000046.1:n.1685-8T>G | |
| NR_137635.2:n.278-8T>G | ||
| NR_137636.2:n.1882-8T>G |