Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312660G>T , CM000673.2:g.118312660G>T | GRCh38 |
| NC_000011.9:g.118183375G>T , CM000673.1:g.118183375G>T | GRCh37 |
| NC_000011.8:g.117688585G>T | NCBI36 |
| NG_007383.1:g.13081G>T , LRG_38:g.13081G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.146G>T MANE Select | ENSP00000354566.4:p.Cys49Phe | |
| ENST00000361763.8:c.146G>T | ENSP00000354566.4:p.Cys49Phe | |
| ENST00000526146.5:n.692G>T | ||
| ENST00000528435.5:n.699G>T | ||
| ENST00000528600.1:c.128G>T | ENSP00000433975.1:p.Cys43Phe | |
| ENST00000529713.5:n.252G>T | ||
| ENST00000531913.1:n.517G>T | ||
| NM_000733.3:c.146G>T , LRG_38t1:c.146G>T | NP_000724.1:p.Cys49Phe | |
| NM_000733.4:c.146G>T MANE Select | NP_000724.1:p.Cys49Phe |