Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.125020798A>T , CM000665.2:g.125020798A>T | GRCh38 |
| NC_000003.11:g.124739642A>T , CM000665.1:g.124739642A>T | GRCh37 |
| NC_000003.10:g.126222332A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020733.2:c.1246T>A MANE Select | NP_065784.1:p.Ser416Thr |
| ENST00000311127.9:c.1246T>A MANE Select | ENSP00000311502.3:p.Ser416Thr |
| NM_020733.1:c.1246T>A | NP_065784.1:p.Ser416Thr |
| ENST00000311127.8:c.1246T>A | ENSP00000311502.3:p.Ser416Thr |
| ENST00000650592.2:c.1246T>A | ENSP00000515478.1:p.Ser416Thr |
| XM_005247666.1:c.1246T>A | XP_005247723.1:p.Ser416Thr |