Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89776706C>T , CM000677.2:g.89776706C>T | GRCh38 |
| NC_000015.9:g.90319937C>T , CM000677.1:g.90319937C>T | GRCh37 |
| NC_000015.8:g.88120941C>T | NCBI36 |
| NG_008608.1:g.5349C>T | |
| NG_008608.2:g.21116C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001039958.2:c.349C>T MANE Select | NP_001035047.1:p.Gln117Ter |
| ENST00000341735.5:c.349C>T MANE Select | ENSP00000342392.3:p.Gln117Ter |
| NM_001039958.1:c.349C>T | NP_001035047.1:p.Gln117Ter |
| ENST00000341735.3:c.349C>T | ENSP00000342392.3:p.Gln117Ter |
| ENST00000558723.1:n.39-1359C>T | |
| ENST00000560219.2:c.31-1359C>T | ENSP00000452998.1:n.31-1359C>T |