Linked Data
dbSNP Id:
rs748135539
ExAC:
19:50364686 C / A
gnomAD v2:
19-50364686-C-A
gnomAD v4:
19-49861429-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49861429C>A , CM000681.2:g.49861429C>A | GRCh38 |
| NC_000019.9:g.50364686C>A , CM000681.1:g.50364686C>A | GRCh37 |
| NC_000019.8:g.55056498C>A | NCBI36 |
| NG_027717.1:g.11137G>T | |
| NG_050666.1:g.17586C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.1448+20G>T MANE Select | ENSP00000323511.2:n.1448+20G>T | |
| ENST00000636840.1:c.59+179G>T | ||
| ENST00000640501.1:c.54+20G>T | ||
| ENST00000322344.7:c.1448+20G>T | ENSP00000323511.2:n.1448+20G>T | |
| ENST00000593946.5:c.*1375+20G>T | ENSP00000468896.1:n.*1375+20G>T | |
| ENST00000594661.5:n.1949+20G>T | ||
| ENST00000595081.5:n.351+20G>T | ||
| ENST00000596014.5:c.1448+20G>T | ENSP00000472300.1:n.1448+20G>T | |
| ENST00000597965.2:c.175G>T | ENSP00000471097.2:n.175G>T | |
| ENST00000599454.5:n.368+20G>T | ||
| ENST00000600573.5:c.1355+20G>T | ENSP00000469826.1:n.1355+20G>T | |
| ENST00000600910.5:c.1338+20G>T | ENSP00000473137.1:n.1338+20G>T | |
| ENST00000601816.3:n.520+20G>T | ||
| ENST00000625216.2:c.529+20G>T | ENSP00000486898.1:n.529+20G>T | |
| ENST00000627232.2:c.1368+20G>T | ENSP00000486037.1:n.1368+20G>T | |
| ENST00000631020.2:c.1340+20G>T | ENSP00000486707.1:n.1340+20G>T | |
| NM_007254.3:c.1448+20G>T | NP_009185.2:n.1448+20G>T | |
| NM_007254.4:c.1448+20G>T MANE Select | NP_009185.2:n.1448+20G>T |