Linked Data
dbSNP Id:
rs372214311
gnomAD v3:
1-17392168-C-A
gnomAD v4:
1-17392168-C-A
MyVariant Identifiers:
chr1:g.17392168C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17392168C>A , CM000663.2:g.17392168C>A | GRCh38 |
| NG_032943.1:g.24923C>A | |
| NG_032943.2:g.24923C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.1017C>A MANE Select | ENSP00000483125.1:p.Ser339Arg | |
| NM_207421.4:c.1017C>A MANE Select | NP_997304.3:p.Ser339Arg |