Linked Data
ClinVar Variation Id:
1923255
ClinVar RCV Id:
RCV002604487
dbSNP Id:
rs762709995
ExAC:
19:50364635 G / A
gnomAD v2:
19-50364635-G-A
gnomAD v3:
19-49861378-G-A
gnomAD v4:
19-49861378-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49861378G>A , CM000681.2:g.49861378G>A | GRCh38 |
| NC_000019.9:g.50364635G>A , CM000681.1:g.50364635G>A | GRCh37 |
| NC_000019.8:g.55056447G>A | NCBI36 |
| NG_027717.1:g.11188C>T | |
| NG_050666.1:g.17535G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.1449-13C>T MANE Select | ENSP00000323511.2:n.1449-13C>T | |
| ENST00000636840.1:c.59+230C>T | ||
| ENST00000640501.1:c.55-17C>T | ||
| ENST00000322344.7:c.1449-13C>T | ENSP00000323511.2:n.1449-13C>T | |
| ENST00000593946.5:c.*1376-13C>T | ENSP00000468896.1:n.*1376-13C>T | |
| ENST00000594661.5:n.1950-13C>T | ||
| ENST00000595081.5:n.352-13C>T | ||
| ENST00000596014.5:c.1449-13C>T | ENSP00000472300.1:n.1449-13C>T | |
| ENST00000597965.2:c.226C>T | ENSP00000471097.2:n.226C>T | |
| ENST00000599454.5:n.369-13C>T | ||
| ENST00000600573.5:c.1356-13C>T | ENSP00000469826.1:n.1356-13C>T | |
| ENST00000600910.5:c.1339-13C>T | ENSP00000473137.1:n.1339-13C>T | |
| ENST00000601816.3:n.521-13C>T | ||
| ENST00000625216.2:c.530-13C>T | ENSP00000486898.1:n.530-13C>T | |
| ENST00000627232.2:c.1369-13C>T | ENSP00000486037.1:n.1369-13C>T | |
| ENST00000631020.2:c.1341-13C>T | ENSP00000486707.1:n.1341-13C>T | |
| NM_007254.3:c.1449-13C>T | NP_009185.2:n.1449-13C>T | |
| NM_007254.4:c.1449-13C>T MANE Select | NP_009185.2:n.1449-13C>T |