Linked Data
ClinVar Variation Id:
894691
ClinVar RCV Id:
RCV001136116
dbSNP Id:
rs202061196
ExAC:
19:50364462 C / T
gnomAD v2:
19-50364462-C-T
gnomAD v3:
19-49861205-C-T
gnomAD v4:
19-49861205-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49861205C>T , CM000681.2:g.49861205C>T | GRCh38 |
| NC_000019.9:g.50364462C>T , CM000681.1:g.50364462C>T | GRCh37 |
| NC_000019.8:g.55056274C>T | NCBI36 |
| NG_027717.1:g.11361G>A | |
| NG_050666.1:g.17362C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.*43G>A MANE Select | ENSP00000323511.2:n.*43G>A | |
| ENST00000636840.1:c.59+403G>A | ||
| ENST00000322344.7:c.*43G>A | ENSP00000323511.2:n.*43G>A | |
| ENST00000593946.5:c.*1536G>A | ENSP00000468896.1:n.*1536G>A | |
| ENST00000594661.5:n.2110G>A | ||
| ENST00000595081.5:n.512G>A | ||
| ENST00000599454.5:n.529G>A | ||
| ENST00000600910.5:c.*131G>A | ENSP00000473137.1:n.*131G>A | |
| ENST00000601816.3:n.681G>A | ||
| ENST00000627232.2:c.1529G>A | ENSP00000486037.1:n.1529G>A | |
| NM_007254.3:c.*43G>A | NP_009185.2:n.*43G>A | |
| NM_007254.4:c.*43G>A MANE Select | NP_009185.2:n.*43G>A |