Linked Data
ClinVar Variation Id:
1612796
ClinVar RCV Id:
RCV002170938
dbSNP Id:
rs1468792596
gnomAD v2:
19-50364690-C-T
gnomAD v3:
19-49861433-C-T
gnomAD v4:
19-49861433-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49861433C>T , CM000681.2:g.49861433C>T | GRCh38 |
| NC_000019.9:g.50364690C>T , CM000681.1:g.50364690C>T | GRCh37 |
| NC_000019.8:g.55056502C>T | NCBI36 |
| NG_027717.1:g.11133G>A | |
| NG_050666.1:g.17590C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.1448+16G>A MANE Select | ENSP00000323511.2:n.1448+16G>A | |
| ENST00000636840.1:c.59+175G>A | ||
| ENST00000640501.1:c.54+16G>A | ||
| ENST00000322344.7:c.1448+16G>A | ENSP00000323511.2:n.1448+16G>A | |
| ENST00000593946.5:c.*1375+16G>A | ENSP00000468896.1:n.*1375+16G>A | |
| ENST00000594661.5:n.1949+16G>A | ||
| ENST00000595081.5:n.351+16G>A | ||
| ENST00000596014.5:c.1448+16G>A | ENSP00000472300.1:n.1448+16G>A | |
| ENST00000597965.2:c.171G>A | ENSP00000471097.2:p.Ter57= | |
| ENST00000599454.5:n.368+16G>A | ||
| ENST00000600573.5:c.1355+16G>A | ENSP00000469826.1:n.1355+16G>A | |
| ENST00000600910.5:c.1338+16G>A | ENSP00000473137.1:n.1338+16G>A | |
| ENST00000601816.3:n.520+16G>A | ||
| ENST00000625216.2:c.529+16G>A | ENSP00000486898.1:n.529+16G>A | |
| ENST00000627232.2:c.1368+16G>A | ENSP00000486037.1:n.1368+16G>A | |
| ENST00000631020.2:c.1340+16G>A | ENSP00000486707.1:n.1340+16G>A | |
| NM_007254.3:c.1448+16G>A | NP_009185.2:n.1448+16G>A | |
| NM_007254.4:c.1448+16G>A MANE Select | NP_009185.2:n.1448+16G>A |