Linked Data
ClinVar Variation Id:
1432833
ClinVar RCV Id:
RCV001944112
dbSNP Id:
rs776440205
ExAC:
19:48922835 C / A
gnomAD v2:
19-48922835-C-A
gnomAD v4:
19-48419578-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48419578C>A , CM000681.2:g.48419578C>A | GRCh38 |
| NC_000019.9:g.48922835C>A , CM000681.1:g.48922835C>A | GRCh37 |
| NC_000019.8:g.53614647C>A | NCBI36 |
| NG_052829.1:g.29704C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263269.4:c.1862-7C>A MANE Select | ENSP00000263269.2:n.1862-7C>A | |
| ENST00000263269.3:c.1862-7C>A | ENSP00000263269.2:n.1862-7C>A | |
| NM_000836.2:c.1862-7C>A | NP_000827.2:n.1862-7C>A | |
| XM_011526872.1:c.1862-7C>A | XP_011525174.1:n.1862-7C>A | |
| NM_000836.4:c.1862-7C>A MANE Select | NP_000827.2:n.1862-7C>A |