Linked Data
ClinVar Variation Id:
501407
dbSNP Id:
rs201601053
ExAC:
2:217340183 C / T
gnomAD v2:
2-217340183-C-T
gnomAD v3:
2-216475460-C-T
gnomAD v4:
2-216475460-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216475460C>T , CM000664.2:g.216475460C>T | GRCh38 |
| NC_000002.11:g.217340183C>T , CM000664.1:g.217340183C>T | GRCh37 |
| NC_000002.10:g.217048428C>T | NCBI36 |
| NG_009771.1:g.68047C>T , LRG_108:g.68047C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425815.6:c.2427+9C>T | ENSP00000394410.2:n.2427+9C>T | |
| ENST00000430374.6:c.2427+9C>T | ENSP00000405077.2:n.2427+9C>T | |
| ENST00000444508.6:c.2427+9C>T | ENSP00000398969.2:n.2427+9C>T | |
| ENST00000697899.1:c.2193+9C>T | ENSP00000513470.1:n.2193+9C>T | |
| ENST00000697901.1:c.*1182+9C>T | ENSP00000513471.1:n.*1182+9C>T | |
| ENST00000697903.1:c.*914+9C>T | ENSP00000513472.1:n.*914+9C>T | |
| ENST00000697904.1:c.*914+9C>T | ENSP00000513473.1:n.*914+9C>T | |
| ENST00000697905.1:c.*914+9C>T | ENSP00000513474.1:n.*914+9C>T | |
| ENST00000697906.1:c.2193+9C>T | ENSP00000513475.1:n.2193+9C>T | |
| ENST00000697907.1:c.*1285+9C>T | ENSP00000513476.1:n.*1285+9C>T | |
| ENST00000697908.1:n.2121+9C>T | ||
| ENST00000697909.1:n.1319+9C>T | ||
| ENST00000697910.1:n.824+9C>T | ||
| ENST00000697911.1:n.733+9C>T | ||
| ENST00000357276.9:c.2427+9C>T MANE Select | ENSP00000349823.4:n.2427+9C>T | |
| ENST00000357276.8:c.2427+9C>T | ENSP00000349823.4:n.2427+9C>T | |
| ENST00000358207.9:c.2427+9C>T | ENSP00000350940.5:n.2427+9C>T | |
| ENST00000392128.6:c.1953+9C>T | ENSP00000375974.2:n.1953+9C>T | |
| NM_001127207.1:c.2427+9C>T | NP_001120679.1:n.2427+9C>T | |
| NM_014140.3:c.2427+9C>T , LRG_108t1:c.2427+9C>T | NP_054859.2:n.2427+9C>T | |
| XM_005246631.2:c.2427+9C>T | XP_005246688.1:n.2427+9C>T | |
| XM_005246632.1:c.2427+9C>T | XP_005246689.1:n.2427+9C>T | |
| XM_006712557.1:c.2361+9C>T | XP_006712620.1:n.2361+9C>T | |
| XM_005246632.2:c.2427+9C>T | XP_005246689.1:n.2427+9C>T | |
| XM_017004228.2:c.1515+9C>T | XP_016859717.1:n.1515+9C>T | |
| NM_001127207.2:c.2427+9C>T | NP_001120679.1:n.2427+9C>T | |
| NM_014140.4:c.2427+9C>T MANE Select | NP_054859.2:n.2427+9C>T |