Linked Data
ClinVar Variation Id:
1696602
ClinVar RCV Id:
RCV002266732
dbSNP Id:
rs2126759091
gnomAD v4:
5-10400776-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10400776C>G , CM000667.2:g.10400776C>G | GRCh38 |
| NC_000005.9:g.10400888C>G , CM000667.1:g.10400888C>G | GRCh37 |
| NC_000005.8:g.10453888C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274140.10:c.914-8C>G MANE Select | ENSP00000274140.4:n.914-8C>G | |
| ENST00000274140.9:c.914-8C>G | ENSP00000274140.4:n.914-8C>G | |
| ENST00000449913.6:c.770-8C>G | ENSP00000414643.2:n.770-8C>G | |
| ENST00000503788.5:c.599-8C>G | ENSP00000425930.1:n.599-8C>G | |
| ENST00000511802.5:n.1098-8C>G | ||
| NM_001270660.1:c.770-8C>G | NP_001257589.1:n.770-8C>G | |
| NM_001270661.1:c.599-8C>G | NP_001257590.1:n.599-8C>G | |
| NM_005885.3:c.914-8C>G | NP_005876.2:n.914-8C>G | |
| XM_011513932.1:c.710-8C>G | XP_011512234.1:n.710-8C>G | |
| XM_011513933.1:c.584-8C>G | XP_011512235.1:n.584-8C>G | |
| XM_011513934.1:c.914-8C>G | XP_011512236.1:n.914-8C>G | |
| XM_011513935.1:c.440-8C>G | XP_011512237.1:n.440-8C>G | |
| XM_011513936.1:c.914-8C>G | XP_011512238.1:n.914-8C>G | |
| XR_925576.1:n.1135-8C>G | ||
| XR_925577.1:n.1135-8C>G | ||
| XM_011513932.2:c.710-8C>G | XP_011512234.1:n.710-8C>G | |
| XM_011513934.2:c.914-8C>G | XP_011512236.1:n.914-8C>G | |
| XM_011513936.3:c.914-8C>G | XP_011512238.1:n.914-8C>G | |
| XM_017008944.2:c.914-8C>G | XP_016864433.1:n.914-8C>G | |
| XR_925576.3:n.1120-8C>G | ||
| XR_925577.2:n.1120-8C>G | ||
| NM_005885.4:c.914-8C>G MANE Select | NP_005876.2:n.914-8C>G | |
| NM_001270660.2:c.770-8C>G | NP_001257589.1:n.770-8C>G | |
| NM_001270661.2:c.599-8C>G | NP_001257590.1:n.599-8C>G |