Linked Data
dbSNP Id:
rs533889458
gnomAD v2:
19-57742384-C-A
gnomAD v3:
19-57231016-C-A
gnomAD v4:
19-57231016-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.57231016C>A , CM000681.2:g.57231016C>A | GRCh38 |
| NC_000019.9:g.57742384C>A , CM000681.1:g.57742384C>A | GRCh37 |
| NC_000019.8:g.62434196C>A | NCBI36 |
| NG_012134.1:g.5008C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415300.6:c.-98C>A | ENSP00000407162.1:n.-98C>A | |
| ENST00000448930.5:c.-149C>A | ENSP00000406798.2:n.-149C>A | |
| NM_001015879.1:c.-98C>A | NP_001015879.1:n.-98C>A | |
| NM_003160.2:c.-148C>A | NP_003151.2:n.-148C>A | |
| XR_430209.2:n.657C>A | ||
| XR_430209.3:n.700C>A |