Linked Data
gnomAD v4:
12-69353292-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353292C>A , CM000674.2:g.69353292C>A | GRCh38 |
| NC_000012.11:g.69747072C>A , CM000674.1:g.69747072C>A | GRCh37 |
| NC_000012.10:g.68033339C>A | NCBI36 |
| NG_008195.1:g.9939C>A , LRG_768:g.9939C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*73C>A MANE Select | ENSP00000261267.2:n.*73C>A | |
| ENST00000261267.6:c.*73C>A | ENSP00000261267.2:n.*73C>A | |
| ENST00000549690.1:c.*27C>A | ENSP00000449898.1:n.*27C>A | |
| NM_000239.2:c.*73C>A , LRG_768t1:c.*73C>A | NP_000230.1:n.*73C>A | |
| NM_000239.3:c.*73C>A MANE Select | NP_000230.1:n.*73C>A |