Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41502942T>A , CM000679.2:g.41502942T>A | GRCh38 |
| NC_000017.10:g.39659194T>A , CM000679.1:g.39659194T>A | GRCh37 |
| NC_000017.9:g.36912720T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_153490.3:c.892A>T MANE Select | NP_705694.3:p.Thr298Ser |
| ENST00000246635.8:c.892A>T MANE Select | ENSP00000246635.3:p.Thr298Ser |
| NM_002274.4:c.892A>T | NP_002265.3:p.Thr298Ser |
| ENST00000246635.7:c.892A>T | ENSP00000246635.3:p.Thr298Ser |
| ENST00000336861.7:c.892A>T | ENSP00000336604.3:p.Thr298Ser |
| ENST00000464634.2:c.*489A>T | ENSP00000466525.1:n.*489A>T |
| ENST00000468313.5:n.728A>T | |
| ENST00000587544.5:c.892A>T | ENSP00000468221.1:p.Thr298Ser |