Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044907A>G , CM000674.2:g.5044907A>G | GRCh38 |
| NC_000012.11:g.5154073A>G , CM000674.1:g.5154073A>G | GRCh37 |
| NC_000012.10:g.5024334A>G | NCBI36 |
| NG_012198.1:g.5989A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.760A>G MANE Select | ENSP00000252321.3:p.Ile254Val | |
| ENST00000252321.4:c.760A>G | ENSP00000252321.3:p.Ile254Val | |
| NM_002234.3:c.760A>G | NP_002225.2:p.Ile254Val | |
| NM_002234.4:c.760A>G MANE Select | NP_002225.2:p.Ile254Val |