Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86629052T>A , CM000670.2:g.86629052T>A | GRCh38 |
| NC_000008.10:g.87641280T>A , CM000670.1:g.87641280T>A | GRCh37 |
| NC_000008.9:g.87710396T>A | NCBI36 |
| NG_016980.1:g.119624A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019098.5:c.1347A>T MANE Select | NP_061971.3:p.Thr449= |
| ENST00000320005.6:c.1347A>T MANE Select | ENSP00000316605.5:p.Thr449= |
| NM_019098.4:c.1347A>T | NP_061971.3:p.Thr449= |
| ENST00000320005.5:c.1347A>T | ENSP00000316605.5:p.Thr449= |
| ENST00000681546.1:n.1167A>T | |
| ENST00000681746.1:c.1347A>T | ENSP00000505959.1:p.Thr449= |
| XM_011517138.1:c.933A>T | XP_011515440.1:p.Thr311= |
| XM_011517138.2:c.933A>T | XP_011515440.1:p.Thr311= |