Linked Data
ClinVar Variation Id:
409869
dbSNP Id:
rs373529765
ExAC:
19:47112242 A / G
gnomAD v2:
19-47112242-A-G
gnomAD v3:
19-46608985-A-G
gnomAD v4:
19-46608985-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.46608985A>G , CM000681.2:g.46608985A>G | GRCh38 |
| NC_000019.9:g.47112242A>G , CM000681.1:g.47112242A>G | GRCh37 |
| NC_000019.8:g.51804082A>G | NCBI36 |
| NG_051331.1:g.12912A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291295.14:c.421+4A>G MANE Select | ENSP00000291295.8:n.421+4A>G | |
| ENST00000595072.2:n.2850+4A>G | ||
| ENST00000602169.2:c.*457+4A>G | ENSP00000499372.1:n.*457+4A>G | |
| ENST00000291295.13:c.421+4A>G | ENSP00000291295.8:n.421+4A>G | |
| ENST00000391918.6:c.313+4A>G | ENSP00000375785.2:n.313+4A>G | |
| ENST00000477244.5:n.545+4A>G | ||
| ENST00000482455.5:n.531+4A>G | ||
| ENST00000486500.1:n.879+4A>G | ||
| ENST00000594523.5:c.313+4A>G | ENSP00000468877.1:n.313+4A>G | |
| ENST00000595072.1:n.611+4A>G | ||
| ENST00000596362.1:c.421+4A>G | ENSP00000472141.1:n.421+4A>G | |
| ENST00000597743.5:c.223+4A>G | ENSP00000470308.1:n.223+4A>G | |
| ENST00000597868.5:n.746+4A>G | ||
| ENST00000598871.5:c.313+4A>G | ENSP00000470502.1:n.313+4A>G | |
| ENST00000599839.5:c.313+4A>G | ENSP00000471225.1:n.313+4A>G | |
| NM_005184.2:c.421+4A>G | NP_005175.2:n.421+4A>G | |
| NM_001329921.1:c.313+4A>G | NP_001316850.1:n.313+4A>G | |
| NM_001329922.1:c.421+4A>G | NP_001316851.1:n.421+4A>G | |
| NM_001329923.1:c.313+4A>G | NP_001316852.1:n.313+4A>G | |
| NM_001329924.1:c.313+4A>G | NP_001316853.1:n.313+4A>G | |
| NM_001329925.1:c.313+4A>G | NP_001316854.1:n.313+4A>G | |
| NM_001329926.1:c.313+4A>G | NP_001316855.1:n.313+4A>G | |
| NM_005184.3:c.421+4A>G | NP_005175.2:n.421+4A>G | |
| NM_001329924.2:c.313+4A>G | NP_001316853.1:n.313+4A>G | |
| NM_001329925.2:c.313+4A>G | NP_001316854.1:n.313+4A>G | |
| NM_001329926.2:c.313+4A>G | NP_001316855.1:n.313+4A>G | |
| NM_005184.4:c.421+4A>G MANE Select | NP_005175.2:n.421+4A>G |