Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41611473T>A , CM000679.2:g.41611473T>A | GRCh38 |
| NC_000017.10:g.39767725T>A , CM000679.1:g.39767725T>A | GRCh37 |
| NC_000017.9:g.37021251T>A | NCBI36 |
| NG_008301.1:g.6355A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005557.4:c.643A>T MANE Select | NP_005548.2:p.Thr215Ser |
| ENST00000301653.9:c.643A>T MANE Select | ENSP00000301653.3:p.Thr215Ser |
| NM_005557.3:c.643A>T | NP_005548.2:p.Thr215Ser |
| ENST00000301653.8:c.643A>T | ENSP00000301653.3:p.Thr215Ser |
| ENST00000593067.1:c.-72A>T | ENSP00000467124.1:n.-72A>T |