Linked Data
ClinVar Variation Id:
89070
ClinVar RCV Id:
RCV000074605
dbSNP Id:
rs398122421
ExAC:
19:7935835 C / T
gnomAD v2:
19-7935835-C-T
gnomAD v3:
19-7870949-C-T
gnomAD v4:
19-7870949-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7870949C>T , CM000681.2:g.7870949C>T | GRCh38 |
| NC_000019.9:g.7935835C>T , CM000681.1:g.7935835C>T | GRCh37 |
| NC_000019.8:g.7841835C>T | NCBI36 |
| NG_033809.1:g.8493G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000618550.5:c.2295G>A MANE Select | ENSP00000482374.1:p.Pro765= | |
| ENST00000615988.3:c.578-1032G>A | ||
| ENST00000618550.4:c.2295G>A | ENSP00000482374.1:p.Pro765= | |
| NM_001190467.1:c.2295G>A | NP_001177396.1:p.Pro765= | |
| NR_104345.1:n.833-1032G>A | ||
| NM_001190467.2:c.2295G>A MANE Select | NP_001177396.1:p.Pro765= | |
| NR_104345.2:n.782-1032G>A |