Linked Data
dbSNP Id:
rs769814819
ExAC:
1:68895597 A / T
gnomAD v2:
1-68895597-A-T
gnomAD v4:
1-68429914-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429914A>T , CM000663.2:g.68429914A>T | GRCh38 |
| NC_000001.10:g.68895597A>T , CM000663.1:g.68895597A>T | GRCh37 |
| NC_000001.9:g.68668185A>T | NCBI36 |
| NG_008472.1:g.25046T>A | |
| NG_008472.2:g.25046T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1464T>A MANE Select | ENSP00000262340.5:p.Ser488Arg | |
| ENST00000262340.5:c.1464T>A | ENSP00000262340.5:p.Ser488Arg | |
| NM_000329.2:c.1464T>A | NP_000320.1:p.Ser488Arg | |
| XM_017002027.1:c.1188T>A | XP_016857516.1:p.Ser396Arg | |
| NM_000329.3:c.1464T>A MANE Select | NP_000320.1:p.Ser488Arg |