Linked Data
gnomAD v4:
12-52447704-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52447704C>T , CM000674.2:g.52447704C>T | GRCh38 |
| NC_000012.11:g.52841488C>T , CM000674.1:g.52841488C>T | GRCh37 |
| NC_000012.10:g.51127755C>T | NCBI36 |
| NG_008299.1:g.9423G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.1424+74G>A MANE Select | ENSP00000252252.3:n.1424+74G>A | |
| ENST00000252252.3:c.1424+74G>A | ENSP00000252252.3:n.1424+74G>A | |
| NM_005555.3:c.1424+74G>A | NP_005546.2:n.1424+74G>A | |
| NM_005555.4:c.1424+74G>A MANE Select | NP_005546.2:n.1424+74G>A |