Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.38373119C>A , CM000682.2:g.38373119C>A | GRCh38 |
| NC_000020.10:g.37001763C>A , CM000682.1:g.37001763C>A | GRCh37 |
| NC_000020.9:g.36435177C>A | NCBI36 |
| NG_034239.1:g.31709C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004139.5:c.1308C>A MANE Select | NP_004130.2:p.Phe436Leu |
| ENST00000217407.3:c.1308C>A MANE Select | ENSP00000217407.2:p.Phe436Leu |
| NM_004139.4:c.1308C>A | NP_004130.2:p.Phe436Leu |
| ENST00000217407.2:c.1308C>A | ENSP00000217407.2:p.Phe436Leu |