Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110428545C>T , CM000675.2:g.110428545C>T | GRCh38 |
| NC_000013.10:g.111080892C>T , CM000675.1:g.111080892C>T | GRCh37 |
| NC_000013.9:g.109878893C>T | NCBI36 |
| NG_032137.1:g.126262C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001846.4:c.439C>T MANE Select | NP_001837.2:p.Gln147Ter |
| ENST00000360467.7:c.439C>T MANE Select | ENSP00000353654.5:p.Gln147Ter |
| NM_001846.2:c.439C>T | NP_001837.2:p.Gln147Ter |
| NM_001846.3:c.439C>T | NP_001837.2:p.Gln147Ter |
| ENST00000360467.5:c.439C>T | ENSP00000353654.5:p.Gln147Ter |
| ENST00000619688.2:c.191C>T | |
| ENST00000650540.1:c.439C>T | ENSP00000497878.1:p.Gln147Ter |