Linked Data
dbSNP Id:
rs776449550
ExAC:
1:17727806 C / A
gnomAD v2:
1-17727806-C-A
gnomAD v4:
1-17401310-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17401310C>A , CM000663.2:g.17401310C>A | GRCh38 |
| NC_000001.10:g.17727806C>A , CM000663.1:g.17727806C>A | GRCh37 |
| NC_000001.9:g.17600393C>A | NCBI36 |
| NG_032943.1:g.34065C>A | |
| NG_032943.2:g.34065C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.1957C>A MANE Select | ENSP00000483125.1:p.Pro653Thr | |
| NM_207421.4:c.1957C>A MANE Select | NP_997304.3:p.Pro653Thr |