Linked Data
dbSNP Id:
rs778505927
ExAC:
12:52881709 T / A
gnomAD v2:
12-52881709-T-A
gnomAD v4:
12-52487925-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52487925T>A , CM000674.2:g.52487925T>A | GRCh38 |
| NC_000012.11:g.52881709T>A , CM000674.1:g.52881709T>A | GRCh37 |
| NC_000012.10:g.51167976T>A | NCBI36 |
| NG_008298.1:g.10473A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1490A>T MANE Select | ENSP00000369317.3:p.Tyr497Phe | |
| ENST00000330722.6:c.1490A>T | ENSP00000369317.3:p.Tyr497Phe | |
| NM_005554.3:c.1490A>T | NP_005545.1:p.Tyr497Phe | |
| NM_005554.4:c.1490A>T MANE Select | NP_005545.1:p.Tyr497Phe |