Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022627C>A , CM000663.2:g.17022627C>A | GRCh38 |
| NC_000001.10:g.17349122C>A , CM000663.1:g.17349122C>A | GRCh37 |
| NC_000001.9:g.17221709C>A | NCBI36 |
| NG_012340.1:g.36544G>T , LRG_316:g.36544G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003000.3:c.746G>T MANE Select | NP_002991.2:p.Cys249Phe |
| ENST00000375499.8:c.746G>T MANE Select | ENSP00000364649.3:p.Cys249Phe |
| NM_003000.2:c.746G>T , LRG_316t1:c.746G>T | NP_002991.2:p.Cys249Phe |
| ENST00000375499.7:c.746G>T | ENSP00000364649.3:p.Cys249Phe |
| ENST00000463045.3:c.575G>T | ENSP00000481376.2:p.Cys192Phe |
| ENST00000475049.5:n.171G>T | |
| ENST00000485092.5:n.410G>T | |
| ENST00000485515.5:n.680G>T | |
| ENST00000491274.6:c.704G>T | ENSP00000480482.2:p.Cys235Phe |