Linked Data
dbSNP Id:
rs2075301176
gnomAD v4:
1-17401491-C-A
MyVariant Identifiers:
chr1:g.17727987C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17401491C>A , CM000663.2:g.17401491C>A | GRCh38 |
| NC_000001.10:g.17727987C>A , CM000663.1:g.17727987C>A | GRCh37 |
| NC_000001.9:g.17600574C>A | NCBI36 |
| NG_032943.1:g.34246C>A | |
| NG_032943.2:g.34246C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.*53C>A MANE Select | ENSP00000483125.1:n.*53C>A | |
| NM_207421.4:c.*53C>A MANE Select | NP_997304.3:n.*53C>A |