Linked Data
dbSNP Id:
rs1346371483
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33275098C>A , CM000682.2:g.33275098C>A | GRCh38 |
| NC_000020.10:g.31862904C>A , CM000682.1:g.31862904C>A | GRCh37 |
| NC_000020.9:g.31326565C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423645.5:c.-42+1444C>A | ENSP00000390471.1:n.-42+1444C>A | |
| XM_024452018.1:c.-295+1444C>A | XP_024307786.1:n.-295+1444C>A |