Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045476C>T , CM000674.2:g.5045476C>T | GRCh38 |
| NC_000012.11:g.5154642C>T , CM000674.1:g.5154642C>T | GRCh37 |
| NC_000012.10:g.5024903C>T | NCBI36 |
| NG_012198.1:g.6558C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002234.4:c.1329C>T MANE Select | NP_002225.2:p.Ile443= |
| ENST00000252321.5:c.1329C>T MANE Select | ENSP00000252321.3:p.Ile443= |
| NM_002234.3:c.1329C>T | NP_002225.2:p.Ile443= |
| ENST00000252321.4:c.1329C>T | ENSP00000252321.3:p.Ile443= |