Linked Data
dbSNP Id:
rs769337001
ExAC:
1:101005585 G / A
gnomAD v2:
1-101005585-G-A
gnomAD v4:
1-100540029-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100540029G>A , CM000663.2:g.100540029G>A | GRCh38 |
| NC_000001.10:g.101005585G>A , CM000663.1:g.101005585G>A | GRCh37 |
| NC_000001.9:g.100778173G>A | NCBI36 |
| NG_053134.1:g.6858G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315033.5:c.1063G>A MANE Select | ENSP00000314223.4:p.Gly355Ser | |
| ENST00000315033.4:c.1063G>A | ENSP00000314223.4:p.Gly355Ser | |
| NM_022049.2:c.1063G>A | NP_071332.2:p.Gly355Ser | |
| NM_022049.3:c.1063G>A MANE Select | NP_071332.2:p.Gly355Ser |