Linked Data
dbSNP Id:
rs929460121
gnomAD v2:
10-69991342-C-A
gnomAD v3:
10-68231585-C-A
gnomAD v4:
10-68231585-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68231585C>A , CM000672.2:g.68231585C>A | GRCh38 |
| NC_000010.10:g.69991342C>A , CM000672.1:g.69991342C>A | GRCh37 |
| NC_000010.9:g.69661348C>A | NCBI36 |
| NG_031934.1:g.5529G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373673.5:c.93G>T MANE Select | ENSP00000362777.3:p.Gly31= | |
| ENST00000373673.4:c.93G>T | ENSP00000362777.3:p.Gly31= | |
| NM_145178.3:c.93G>T | NP_660161.1:p.Gly31= | |
| NM_145178.4:c.93G>T MANE Select | NP_660161.1:p.Gly31= |