Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785748G>C , CM000681.2:g.18785748G>C | GRCh38 |
| NC_000019.9:g.18896558G>C , CM000681.1:g.18896558G>C | GRCh37 |
| NC_000019.8:g.18757558G>C | NCBI36 |
| NG_007070.1:g.10557C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1593C>G MANE Select | ENSP00000222271.2:p.Phe531Leu | |
| ENST00000222271.6:c.1593C>G | ENSP00000222271.2:p.Phe531Leu | |
| ENST00000425807.1:c.1434C>G | ENSP00000403792.1:p.Phe478Leu | |
| ENST00000542601.6:c.1494C>G | ENSP00000439156.2:p.Phe498Leu | |
| NM_000095.2:c.1593C>G | NP_000086.2:p.Phe531Leu | |
| NM_000095.3:c.1593C>G MANE Select | NP_000086.2:p.Phe531Leu |