Linked Data
ClinVar Variation Id:
380031
dbSNP Id:
rs2241501
ExAC:
11:125479496 C / T
gnomAD v2:
11-125479496-C-T
gnomAD v3:
11-125609601-C-T
gnomAD v4:
11-125609601-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.125609601C>T , CM000673.2:g.125609601C>T | GRCh38 |
| NC_000011.9:g.125479496C>T , CM000673.1:g.125479496C>T | GRCh37 |
| NC_000011.8:g.124984706C>T | NCBI36 |
| NG_042806.1:g.21807C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392708.9:c.1117+12C>T MANE Select | ENSP00000376472.3:n.1117+12C>T | |
| ENST00000649491.1:c.1117+12C>T | ENSP00000497336.1:n.1117+12C>T | |
| ENST00000392708.8:c.1117+12C>T | ENSP00000376472.3:n.1117+12C>T | |
| ENST00000524639.5:n.171+12C>T | ||
| ENST00000526726.1:c.344+12C>T | ||
| ENST00000529196.5:c.1117+12C>T | ENSP00000436962.1:n.1117+12C>T | |
| ENST00000531001.1:n.298+12C>T | ||
| ENST00000531491.5:c.841+12C>T | ENSP00000432820.1:n.841+12C>T | |
| ENST00000534472.5:n.1264C>T | ||
| NM_001278503.1:c.1117+12C>T | NP_001265432.1:n.1117+12C>T | |
| NM_001278504.1:c.841+12C>T | NP_001265433.1:n.841+12C>T | |
| NM_152713.4:c.1117+12C>T | NP_689926.1:n.1117+12C>T | |
| XM_011542807.1:c.1117+12C>T | XP_011541109.1:n.1117+12C>T | |
| XM_011542808.1:c.1117+12C>T | XP_011541110.1:n.1117+12C>T | |
| XM_011542807.3:c.1117+12C>T | XP_011541109.1:n.1117+12C>T | |
| XR_001747860.2:n.1224+12C>T | ||
| NM_001278503.2:c.1117+12C>T | NP_001265432.1:n.1117+12C>T | |
| NM_001278504.2:c.841+12C>T | NP_001265433.1:n.841+12C>T | |
| NM_152713.5:c.1117+12C>T MANE Select | NP_689926.1:n.1117+12C>T |