Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94398390A>G , CM000669.2:g.94398390A>G | GRCh38 |
| NC_000007.13:g.94027702A>G , CM000669.1:g.94027702A>G | GRCh37 |
| NC_000007.12:g.93865638A>G | NCBI36 |
| NG_007405.1:g.8830A>G , LRG_2:g.8830A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.90A>G MANE Select | ENSP00000297268.6:p.Val30= | |
| ENST00000297268.10:c.90A>G | ENSP00000297268.6:p.Val30= | |
| ENST00000620463.1:c.84A>G | ENSP00000477719.1:p.Val28= | |
| NM_000089.3:c.90A>G , LRG_2t1:c.90A>G | NP_000080.2:p.Val30= | |
| NM_000089.4:c.90A>G MANE Select | NP_000080.2:p.Val30= |