Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94404562A>G , CM000669.2:g.94404562A>G | GRCh38 |
| NC_000007.13:g.94033874A>G , CM000669.1:g.94033874A>G | GRCh37 |
| NC_000007.12:g.93871810A>G | NCBI36 |
| NG_007405.1:g.15002A>G , LRG_2:g.15002A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.286A>G MANE Select | ENSP00000297268.6:p.Met96Val | |
| ENST00000297268.10:c.286A>G | ENSP00000297268.6:p.Met96Val | |
| ENST00000620463.1:c.280A>G | ENSP00000477719.1:p.Met94Val | |
| NM_000089.3:c.286A>G , LRG_2t1:c.286A>G | NP_000080.2:p.Met96Val | |
| NM_000089.4:c.286A>G MANE Select | NP_000080.2:p.Met96Val |