Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73386082G>T , CM000664.2:g.73386082G>T | GRCh38 |
| NC_000002.11:g.73613210G>T , CM000664.1:g.73613210G>T | GRCh37 |
| NC_000002.10:g.73466718G>T | NCBI36 |
| NG_011690.1:g.5328G>T , LRG_741:g.5328G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001378454.1:c.214G>T MANE Select | NP_001365383.1:p.Glu72Ter |
| ENST00000613296.6:c.214G>T MANE Select | ENSP00000482968.1:p.Glu72Ter |
| NM_015120.4:c.217G>T , LRG_741t1:c.217G>T | NP_055935.4:p.Glu73Ter |
| ENST00000484298.5:c.214G>T | ENSP00000478155.1:p.Glu72Ter |
| ENST00000613296.4:c.214G>T | ENSP00000482968.1:p.Glu72Ter |
| ENST00000614410.4:c.214G>T | ENSP00000479094.1:p.Glu72Ter |
| ENST00000682675.1:n.174G>T | |
| ENST00000682889.1:n.179G>T | |
| ENST00000684148.1:n.86G>T |