Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52447897C>T , CM000674.2:g.52447897C>T | GRCh38 |
| NC_000012.11:g.52841681C>T , CM000674.1:g.52841681C>T | GRCh37 |
| NC_000012.10:g.51127948C>T | NCBI36 |
| NG_008299.1:g.9230G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.1305G>A MANE Select | ENSP00000252252.3:p.Gln435= | |
| ENST00000252252.3:c.1305G>A | ENSP00000252252.3:p.Gln435= | |
| NM_005555.3:c.1305G>A | NP_005546.2:p.Gln435= | |
| NM_005555.4:c.1305G>A MANE Select | NP_005546.2:p.Gln435= |