Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52447903G>A , CM000674.2:g.52447903G>A | GRCh38 |
| NC_000012.11:g.52841687G>A , CM000674.1:g.52841687G>A | GRCh37 |
| NC_000012.10:g.51127954G>A | NCBI36 |
| NG_008299.1:g.9224C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.1299C>T MANE Select | ENSP00000252252.3:p.Ala433= | |
| ENST00000252252.3:c.1299C>T | ENSP00000252252.3:p.Ala433= | |
| NM_005555.3:c.1299C>T | NP_005546.2:p.Ala433= | |
| NM_005555.4:c.1299C>T MANE Select | NP_005546.2:p.Ala433= |