Linked Data
dbSNP Id:
rs775114428
ExAC:
1:109806974 G / A
gnomAD v2:
1-109806974-G-A
gnomAD v3:
1-109264352-G-A
gnomAD v4:
1-109264352-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109264352G>A , CM000663.2:g.109264352G>A | GRCh38 |
| NC_000001.10:g.109806974G>A , CM000663.1:g.109806974G>A | GRCh37 |
| NC_000001.9:g.109608497G>A | NCBI36 |
| NG_052669.1:g.19648G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271332.4:c.5276G>A MANE Select | ENSP00000271332.3:p.Arg1759Gln | |
| ENST00000271332.3:c.5276G>A | ENSP00000271332.3:p.Arg1759Gln | |
| NM_001408.2:c.5276G>A | NP_001399.1:p.Arg1759Gln | |
| XM_005270580.3:c.5276G>A | XP_005270637.1:p.Arg1759Gln | |
| NM_001408.3:c.5276G>A MANE Select | NP_001399.1:p.Arg1759Gln |