Linked Data
gnomAD v4:
12-52447761-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52447761T>C , CM000674.2:g.52447761T>C | GRCh38 |
| NC_000012.11:g.52841545T>C , CM000674.1:g.52841545T>C | GRCh37 |
| NC_000012.10:g.51127812T>C | NCBI36 |
| NG_008299.1:g.9366A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252252.4:c.1424+17A>G MANE Select | ENSP00000252252.3:n.1424+17A>G | |
| ENST00000252252.3:c.1424+17A>G | ENSP00000252252.3:n.1424+17A>G | |
| NM_005555.3:c.1424+17A>G | NP_005546.2:n.1424+17A>G | |
| NM_005555.4:c.1424+17A>G MANE Select | NP_005546.2:n.1424+17A>G |