Linked Data
gnomAD v4:
1-218345126-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218345126C>A , CM000663.2:g.218345126C>A | GRCh38 |
| NC_000001.10:g.218518468C>A , CM000663.1:g.218518468C>A | GRCh37 |
| NC_000001.9:g.216585091C>A | NCBI36 |
| NG_027721.1:g.4793C>A | |
| NG_027721.2:g.4793C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_046268.1:n.290+49G>T |