Linked Data
ClinVar Variation Id:
330119
ClinVar RCV Id:
RCV000407256
dbSNP Id:
rs886054622
gnomAD v4:
19-54190280-C-A
MyVariant Identifiers:
chr19:g.54190280C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54190280C>A , CM000681.2:g.54190280C>A | GRCh38 |
| NC_000019.8:g.59385943C>A | NCBI36 |
| NG_015810.2:g.5046C>A | |
| NG_033045.2:g.4596G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429671.7:c.-96C>A | ENSP00000397402.4:n.-96C>A | |
| ENST00000455798.6:c.-5+118C>A | ENSP00000400743.2:n.-5+118C>A | |
| ENST00000302937.8:c.-175C>A | ENSP00000305524.4:n.-175C>A | |
| ENST00000429671.6:c.-87C>A | ENSP00000397402.3:n.-87C>A | |
| ENST00000455798.5:c.-5+118C>A | ENSP00000400743.1:n.-5+118C>A | |
| ENST00000456872.5:c.-87C>A | ENSP00000408689.1:n.-87C>A | |
| NM_001282333.1:c.-87C>A | NP_001269262.1:n.-87C>A | |
| NM_024075.4:c.-175C>A | NP_076980.2:n.-175C>A | |
| XM_005278290.3:c.-87C>A | XP_005278347.1:n.-87C>A | |
| XM_011527294.1:c.-5+118C>A | XP_011525596.1:n.-5+118C>A | |
| XM_011527295.1:c.-5+684C>A | XP_011525597.1:n.-5+684C>A | |
| XM_005278290.4:c.-87C>A | XP_005278347.1:n.-87C>A | |
| XM_011527294.3:c.-5+118C>A | XP_011525596.1:n.-5+118C>A |