Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.107378345T>C , CM000665.2:g.107378345T>C | GRCh38 |
| NC_000003.11:g.107097192T>C , CM000665.1:g.107097192T>C | GRCh37 |
| NC_000003.10:g.108579882T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032600.3:c.758T>C MANE Select | NP_115989.1:p.Phe253Ser |
| ENST00000261058.3:c.758T>C MANE Select | ENSP00000261058.1:p.Phe253Ser |
| NM_032600.2:c.758T>C | NP_115989.1:p.Phe253Ser |
| ENST00000261058.2:c.758T>C | ENSP00000261058.1:p.Phe253Ser |