Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48857722G>T , CM000665.2:g.48857722G>T | GRCh38 |
| NC_000003.11:g.48895155G>T , CM000665.1:g.48895155G>T | GRCh37 |
| NC_000003.10:g.48870159G>T | NCBI36 |
| NG_008171.1:g.46175C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000387.6:c.894C>A MANE Select | NP_000378.1:p.Thr298= |
| ENST00000319017.5:c.894C>A MANE Select | ENSP00000326305.4:p.Thr298= |
| NM_000387.5:c.894C>A | NP_000378.1:p.Thr298= |
| ENST00000319017.4:c.894C>A | ENSP00000326305.4:p.Thr298= |
| ENST00000430379.5:c.675C>A | ENSP00000388986.1:p.Thr225= |
| ENST00000440964.1:c.*724C>A | ENSP00000388563.1:n.*724C>A |
| ENST00000479050.1:n.213C>A | |
| XM_006713327.1:c.*31C>A | XP_006713390.1:n.*31C>A |