Linked Data
ClinVar Variation Id:
330090
ClinVar RCV Id:
RCV000329572
dbSNP Id:
rs886054617
gnomAD v3:
19-54115774-A-C
gnomAD v4:
19-54115774-A-C
MyVariant Identifiers:
chr19:g.54115774A>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54115774A>C , CM000681.2:g.54115774A>C | GRCh38 |
| NC_000019.8:g.59310966A>C | NCBI36 |
| NG_009759.1:g.5365A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321030.9:c.-32A>C MANE Select | ENSP00000324122.4:n.-32A>C | |
| ENST00000321030.8:c.-32A>C | ENSP00000324122.4:n.-32A>C | |
| ENST00000419967.5:c.-32A>C | ENSP00000405166.2:n.-32A>C | |
| ENST00000445811.5:c.-55A>C | ENSP00000395894.1:n.-55A>C | |
| NM_015629.3:c.-32A>C | NP_056444.3:n.-32A>C | |
| XM_006723137.2:c.-62A>C | XP_006723200.1:n.-62A>C | |
| XR_935789.1:n.18A>C | ||
| XM_006723137.4:c.-62A>C | XP_006723200.1:n.-62A>C | |
| XR_002958293.1:n.69A>C | ||
| XR_935789.3:n.30A>C | ||
| NM_015629.4:c.-32A>C MANE Select | NP_056444.3:n.-32A>C |