Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52447706T>C , CM000674.2:g.52447706T>C | GRCh38 |
| NC_000012.11:g.52841490T>C , CM000674.1:g.52841490T>C | GRCh37 |
| NC_000012.10:g.51127757T>C | NCBI36 |
| NG_008299.1:g.9421A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.1424+72A>G MANE Select | ENSP00000252252.3:n.1424+72A>G | |
| ENST00000252252.3:c.1424+72A>G | ENSP00000252252.3:n.1424+72A>G | |
| NM_005555.3:c.1424+72A>G | NP_005546.2:n.1424+72A>G | |
| NM_005555.4:c.1424+72A>G MANE Select | NP_005546.2:n.1424+72A>G |