Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73386104G>A , CM000664.2:g.73386104G>A | GRCh38 |
| NC_000002.11:g.73613232G>A , CM000664.1:g.73613232G>A | GRCh37 |
| NC_000002.10:g.73466740G>A | NCBI36 |
| NG_011690.1:g.5350G>A , LRG_741:g.5350G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001378454.1:c.236G>A MANE Select | NP_001365383.1:p.Trp79Ter |
| ENST00000613296.6:c.236G>A MANE Select | ENSP00000482968.1:p.Trp79Ter |
| NM_015120.4:c.239G>A , LRG_741t1:c.239G>A | NP_055935.4:p.Trp80Ter |
| ENST00000484298.5:c.236G>A | ENSP00000478155.1:p.Trp79Ter |
| ENST00000613296.4:c.236G>A | ENSP00000482968.1:p.Trp79Ter |
| ENST00000614410.4:c.236G>A | ENSP00000479094.1:p.Trp79Ter |
| ENST00000682675.1:n.196G>A | |
| ENST00000682889.1:n.201G>A | |
| ENST00000684148.1:n.108G>A |