Linked Data
gnomAD v4:
12-52447696-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52447697dup , CM000674.2:g.52447697dup | GRCh38 |
| NC_000012.11:g.52841481dup , CM000674.1:g.52841481dup | GRCh37 |
| NC_000012.10:g.51127748dup | NCBI36 |
| NG_008299.1:g.9430dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.1424+81dup MANE Select | ENSP00000252252.3:n.1424+81dup | |
| ENST00000252252.3:c.1424+81dup | ENSP00000252252.3:n.1424+81dup | |
| NM_005555.3:c.1424+81dup | NP_005546.2:n.1424+81dup | |
| NM_005555.4:c.1424+81dup MANE Select | NP_005546.2:n.1424+81dup |