Linked Data
ClinVar Variation Id:
390889
ClinVar RCV Id:
RCV000438811
dbSNP Id:
rs1057523914
gnomAD v3:
11-125593735-C-G
gnomAD v4:
11-125593735-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.125593735C>G , CM000673.2:g.125593735C>G | GRCh38 |
| NC_000011.9:g.125463630C>G , CM000673.1:g.125463630C>G | GRCh37 |
| NC_000011.8:g.124968840C>G | NCBI36 |
| NG_042806.1:g.5941C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392708.9:c.-36+817C>G MANE Select | ENSP00000376472.3:n.-36+817C>G | |
| ENST00000649491.1:c.-83-315C>G | ENSP00000497336.1:n.-83-315C>G | |
| ENST00000392708.8:c.-36+817C>G | ENSP00000376472.3:n.-36+817C>G | |
| ENST00000525652.5:c.-36+303C>G | ENSP00000435810.1:n.-36+303C>G | |
| ENST00000527606.5:c.-36+1848C>G | ENSP00000436558.1:n.-36+1848C>G | |
| ENST00000529196.5:c.-36+10C>G | ENSP00000436962.1:n.-36+10C>G | |
| ENST00000531491.5:c.-189+817C>G | ENSP00000432820.1:n.-189+817C>G | |
| ENST00000534472.5:n.100+817C>G | ||
| NM_001278503.1:c.-36+10C>G | NP_001265432.1:n.-36+10C>G | |
| NM_001278504.1:c.-189+817C>G | NP_001265433.1:n.-189+817C>G | |
| NM_152713.4:c.-36+817C>G | NP_689926.1:n.-36+817C>G | |
| XM_011542808.1:c.-36+817C>G | XP_011541110.1:n.-36+817C>G | |
| XM_011542807.3:c.-252+817C>G | XP_011541109.1:n.-252+817C>G | |
| XR_001747860.2:n.72+817C>G | ||
| NM_001278503.2:c.-36+10C>G | NP_001265432.1:n.-36+10C>G | |
| NM_001278504.2:c.-189+817C>G | NP_001265433.1:n.-189+817C>G | |
| NM_152713.5:c.-36+817C>G MANE Select | NP_689926.1:n.-36+817C>G |