Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52680274G>A , CM000674.2:g.52680274G>A | GRCh38 |
| NC_000012.11:g.53074058G>A , CM000674.1:g.53074058G>A | GRCh37 |
| NC_000012.10:g.51360325G>A | NCBI36 |
| NG_008364.1:g.5134C>T | |
| NG_008364.2:g.5134C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252244.3:c.75C>T MANE Select | ENSP00000252244.3:p.Ile25= | |
| NM_006121.3:c.75C>T | NP_006112.3:p.Ile25= | |
| NM_006121.4:c.75C>T MANE Select | NP_006112.3:p.Ile25= |