Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73386152A>G , CM000664.2:g.73386152A>G | GRCh38 |
| NC_000002.11:g.73613280A>G , CM000664.1:g.73613280A>G | GRCh37 |
| NC_000002.10:g.73466788A>G | NCBI36 |
| NG_011690.1:g.5398A>G , LRG_741:g.5398A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001378454.1:c.284A>G MANE Select | NP_001365383.1:p.Gln95Arg |
| ENST00000613296.6:c.284A>G MANE Select | ENSP00000482968.1:p.Gln95Arg |
| NM_015120.4:c.287A>G , LRG_741t1:c.287A>G | NP_055935.4:p.Gln96Arg |
| ENST00000484298.5:c.284A>G | ENSP00000478155.1:p.Gln95Arg |
| ENST00000613296.4:c.284A>G | ENSP00000482968.1:p.Gln95Arg |
| ENST00000614410.4:c.284A>G | ENSP00000479094.1:p.Gln95Arg |
| ENST00000682675.1:n.244A>G | |
| ENST00000682889.1:n.249A>G | |
| ENST00000684148.1:n.156A>G |