Linked Data
gnomAD v4:
1-100539945-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100539945G>A , CM000663.2:g.100539945G>A | GRCh38 |
| NC_000001.10:g.101005501G>A , CM000663.1:g.101005501G>A | GRCh37 |
| NC_000001.9:g.100778089G>A | NCBI36 |
| NG_053134.1:g.6774G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315033.5:c.979G>A MANE Select | ENSP00000314223.4:p.Ala327Thr | |
| ENST00000315033.4:c.979G>A | ENSP00000314223.4:p.Ala327Thr | |
| NM_022049.2:c.979G>A | NP_071332.2:p.Ala327Thr | |
| NM_022049.3:c.979G>A MANE Select | NP_071332.2:p.Ala327Thr |