Linked Data
gnomAD v4:
12-52516525-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516525G>C , CM000674.2:g.52516525G>C | GRCh38 |
| NC_000012.11:g.52910309G>C , CM000674.1:g.52910309G>C | GRCh37 |
| NC_000012.10:g.51196576G>C | NCBI36 |
| NG_008297.1:g.8935C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1439+112C>G MANE Select | ENSP00000252242.4:n.1439+112C>G | |
| ENST00000252242.8:c.1439+112C>G | ENSP00000252242.4:n.1439+112C>G | |
| ENST00000548409.5:c.561+112C>G | ||
| ENST00000549511.5:n.646+112C>G | ||
| ENST00000552629.5:n.1649C>G | ||
| NM_000424.3:c.1439+112C>G | NP_000415.2:n.1439+112C>G | |
| NM_000424.4:c.1439+112C>G MANE Select | NP_000415.2:n.1439+112C>G |