Linked Data
dbSNP Id:
rs752919507
ExAC:
1:17727827 T / A
gnomAD v3:
1-17401331-T-A
gnomAD v4:
1-17401331-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17401331T>A , CM000663.2:g.17401331T>A | GRCh38 |
| NC_000001.10:g.17727827T>A , CM000663.1:g.17727827T>A | GRCh37 |
| NC_000001.9:g.17600414T>A | NCBI36 |
| NG_032943.1:g.34086T>A | |
| NG_032943.2:g.34086T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.1978T>A MANE Select | ENSP00000483125.1:p.Phe660Ile | |
| NM_207421.4:c.1978T>A MANE Select | NP_997304.3:p.Phe660Ile |