Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451477G>C , CM000674.2:g.52451477G>C | GRCh38 |
| NC_000012.11:g.52845261G>C , CM000674.1:g.52845261G>C | GRCh37 |
| NC_000012.10:g.51131528G>C | NCBI36 |
| NG_008299.1:g.5650C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252252.4:c.540+62C>G MANE Select | ENSP00000252252.3:n.540+62C>G | |
| ENST00000252252.3:c.540+62C>G | ENSP00000252252.3:n.540+62C>G | |
| NM_005555.3:c.540+62C>G | NP_005546.2:n.540+62C>G | |
| NM_005555.4:c.540+62C>G MANE Select | NP_005546.2:n.540+62C>G |