Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118304994C>T , CM000673.2:g.118304994C>T | GRCh38 |
| NC_000011.9:g.118175709C>T , CM000673.1:g.118175709C>T | GRCh37 |
| NC_000011.8:g.117680919C>T | NCBI36 |
| NG_007383.1:g.5415C>T , LRG_38:g.5415C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000733.4:c.42C>T MANE Select | NP_000724.1:p.Leu14= |
| ENST00000361763.9:c.42C>T MANE Select | ENSP00000354566.4:p.Leu14= |
| NM_000733.3:c.42C>T , LRG_38t1:c.42C>T | NP_000724.1:p.Leu14= |
| ENST00000361763.8:c.42C>T | ENSP00000354566.4:p.Leu14= |
| ENST00000526146.5:n.141C>T | |
| ENST00000528435.5:n.148C>T | |
| ENST00000528600.1:c.42C>T | ENSP00000433975.1:p.Leu14= |
| ENST00000529713.5:n.148C>T |