Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94405714C>G , CM000669.2:g.94405714C>G | GRCh38 |
| NC_000007.13:g.94035026C>G , CM000669.1:g.94035026C>G | GRCh37 |
| NC_000007.12:g.93872962C>G | NCBI36 |
| NG_007405.1:g.16154C>G , LRG_2:g.16154C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.528C>G MANE Select | NP_000080.2:p.Phe176Leu |
| ENST00000297268.11:c.528C>G MANE Select | ENSP00000297268.6:p.Phe176Leu |
| NM_000089.3:c.528C>G , LRG_2t1:c.528C>G | NP_000080.2:p.Phe176Leu |
| ENST00000297268.10:c.528C>G | ENSP00000297268.6:p.Phe176Leu |
| ENST00000620463.1:c.522C>G | ENSP00000477719.1:p.Phe174Leu |