Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044890C>T , CM000674.2:g.5044890C>T | GRCh38 |
| NC_000012.11:g.5154056C>T , CM000674.1:g.5154056C>T | GRCh37 |
| NC_000012.10:g.5024317C>T | NCBI36 |
| NG_012198.1:g.5972C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.743C>T MANE Select | ENSP00000252321.3:p.Ser248Phe | |
| ENST00000252321.4:c.743C>T | ENSP00000252321.3:p.Ser248Phe | |
| NM_002234.3:c.743C>T | NP_002225.2:p.Ser248Phe | |
| NM_002234.4:c.743C>T MANE Select | NP_002225.2:p.Ser248Phe |