Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89776760C= , CM000677.2:g.89776760C= | GRCh38 |
| NC_000015.9:g.90319991C= , CM000677.1:g.90319991C= | GRCh37 |
| NC_000015.8:g.88120995C= | NCBI36 |
| NG_008608.1:g.5403C= | |
| NG_008608.2:g.21170C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341735.5:c.403C= MANE Select | ENSP00000342392.3:p.Leu135= | |
| ENST00000341735.3:c.403C= | ENSP00000342392.3:p.Leu135= | |
| ENST00000558723.1:n.39-1305C= | ||
| ENST00000560219.2:c.31-1305C= | ENSP00000452998.1:n.31-1305C= | |
| NM_001039958.1:c.403C= | NP_001035047.1:p.Leu135= | |
| NM_001039958.2:c.403C= MANE Select | NP_001035047.1:p.Leu135= |