Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80476023T>A , CM000679.2:g.80476023T>A | GRCh38 |
| NC_000017.10:g.78449823T>A , CM000679.1:g.78449823T>A | GRCh37 |
| NC_000017.9:g.76064418T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306773.5:c.424A>T MANE Select | ENSP00000307549.4:p.Thr142Ser | |
| ENST00000306773.4:c.424A>T | ENSP00000307549.4:p.Thr142Ser | |
| ENST00000575212.1:n.234-305A>T | ||
| NM_002522.3:c.424A>T | NP_002513.2:p.Thr142Ser | |
| NM_002522.4:c.424A>T MANE Select | NP_002513.2:p.Thr142Ser |