Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86052823T>A , CM000664.2:g.86052823T>A | GRCh38 |
| NC_000002.11:g.86279946T>A , CM000664.1:g.86279946T>A | GRCh37 |
| NC_000002.10:g.86133457T>A | NCBI36 |
| NG_050742.2:g.58333A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015425.6:c.2386A>T MANE Select | NP_056240.2:p.Thr796Ser |
| ENST00000263857.11:c.2386A>T MANE Select | ENSP00000263857.6:p.Thr796Ser |
| NM_015425.3:c.2386A>T | NP_056240.2:p.Thr796Ser |
| NM_015425.5:c.2386A>T | NP_056240.2:p.Thr796Ser |
| ENST00000263857.10:c.2386A>T | ENSP00000263857.6:p.Thr796Ser |
| ENST00000409681.1:c.2386A>T | ENSP00000386300.1:p.Thr796Ser |
| ENST00000683266.1:n.2488A>T | |
| XM_006711983.2:c.2062A>T | XP_006712046.1:p.Thr688Ser |