Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.34857864T>A , CM000668.2:g.34857864T>A | GRCh38 |
| NC_000006.11:g.34825641T>A , CM000668.1:g.34825641T>A | GRCh37 |
| NC_000006.10:g.34933619T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000192788.6:c.1714T>A MANE Select | ENSP00000192788.5:p.Ser572Thr | |
| ENST00000192788.5:c.1714T>A | ENSP00000192788.5:p.Ser572Thr | |
| ENST00000452449.6:c.1714T>A | ENSP00000400628.2:p.Ser572Thr | |
| NM_017754.3:c.1714T>A | NP_060224.3:p.Ser572Thr | |
| XM_005249199.3:c.556T>A | XP_005249256.1:p.Ser186Thr | |
| XM_006715126.2:c.1714T>A | XP_006715189.1:p.Ser572Thr | |
| XM_011514714.1:c.1627T>A | XP_011513016.1:p.Ser543Thr | |
| XM_011514715.1:c.718T>A | XP_011513017.1:p.Ser240Thr | |
| NM_017754.4:c.1714T>A MANE Select | NP_060224.3:p.Ser572Thr |