Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46317415G>T , CM000673.2:g.46317415G>T | GRCh38 |
| NC_000011.9:g.46338966G>T , CM000673.1:g.46338966G>T | GRCh37 |
| NC_000011.8:g.46295542G>T | NCBI36 |
| NG_033264.1:g.44778G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_052854.4:c.1186G>T MANE Select | NP_443086.1:p.Glu396Ter |
| ENST00000621158.5:c.1186G>T MANE Select | ENSP00000481956.1:p.Glu396Ter |
| NM_052854.3:c.1186G>T | NP_443086.1:p.Glu396Ter |
| ENST00000534616.5:n.657G>T | |
| ENST00000616094.1:n.780G>T | |
| ENST00000621158.4:c.1186G>T | ENSP00000481956.1:p.Glu396Ter |