Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41745997G>A , CM000666.2:g.41745997G>A | GRCh38 |
| NC_000004.11:g.41748014G>A , CM000666.1:g.41748014G>A | GRCh37 |
| NC_000004.10:g.41442771G>A | NCBI36 |
| NG_008243.1:g.7974C>T , LRG_513:g.7974C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.755C>T MANE Select | ENSP00000226382.2:p.Ala252Val | |
| ENST00000226382.3:c.755C>T | ENSP00000226382.2:p.Ala252Val | |
| NM_003924.3:c.755C>T , LRG_513t1:c.755C>T | NP_003915.2:p.Ala252Val | |
| NM_003924.4:c.755C>T MANE Select | NP_003915.2:p.Ala252Val |