Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451581C>T , CM000674.2:g.52451581C>T | GRCh38 |
| NC_000012.11:g.52845365C>T , CM000674.1:g.52845365C>T | GRCh37 |
| NC_000012.10:g.51131632C>T | NCBI36 |
| NG_008299.1:g.5546G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.498G>A MANE Select | ENSP00000252252.3:p.Gln166= | |
| ENST00000252252.3:c.498G>A | ENSP00000252252.3:p.Gln166= | |
| NM_005555.3:c.498G>A | NP_005546.2:p.Gln166= | |
| NM_005555.4:c.498G>A MANE Select | NP_005546.2:p.Gln166= |