Linked Data
ClinVar Variation Id:
845835
dbSNP Id:
rs767931252
ExAC:
1:68895542 C / A
gnomAD v2:
1-68895542-C-A
gnomAD v3:
1-68429859-C-A
gnomAD v4:
1-68429859-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429859C>A , CM000663.2:g.68429859C>A | GRCh38 |
| NC_000001.10:g.68895542C>A , CM000663.1:g.68895542C>A | GRCh37 |
| NC_000001.9:g.68668130C>A | NCBI36 |
| NG_008472.1:g.25101G>T | |
| NG_008472.2:g.25101G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1519G>T MANE Select | ENSP00000262340.5:p.Ala507Ser | |
| ENST00000262340.5:c.1519G>T | ENSP00000262340.5:p.Ala507Ser | |
| NM_000329.2:c.1519G>T | NP_000320.1:p.Ala507Ser | |
| XM_017002027.1:c.1243G>T | XP_016857516.1:p.Ala415Ser | |
| NM_000329.3:c.1519G>T MANE Select | NP_000320.1:p.Ala507Ser |