Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80280305G>C , CM000672.2:g.80280305G>C | GRCh38 |
| NC_000010.10:g.82040061G>C , CM000672.1:g.82040061G>C | GRCh37 |
| NC_000010.9:g.82030041G>C | NCBI36 |
| NG_008083.1:g.14374C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.417C>G MANE Select | ENSP00000361287.3:p.Phe139Leu | |
| ENST00000372213.7:c.417C>G | ENSP00000361287.3:p.Phe139Leu | |
| ENST00000455001.1:c.228C>G | ENSP00000414961.1:p.Phe76Leu | |
| NM_000429.2:c.417C>G | NP_000420.1:p.Phe139Leu | |
| XM_005269842.3:c.417C>G | XP_005269899.1:p.Phe139Leu | |
| XM_005269843.3:c.294C>G | XP_005269900.1:p.Phe98Leu | |
| NM_000429.3:c.417C>G MANE Select | NP_000420.1:p.Phe139Leu |