Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80280244G>A , CM000672.2:g.80280244G>A | GRCh38 |
| NC_000010.10:g.82040000G>A , CM000672.1:g.82040000G>A | GRCh37 |
| NC_000010.9:g.82029980G>A | NCBI36 |
| NG_008083.1:g.14435C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.478C>T MANE Select | ENSP00000361287.3:p.Leu160Phe | |
| ENST00000372213.7:c.478C>T | ENSP00000361287.3:p.Leu160Phe | |
| ENST00000455001.1:c.289C>T | ENSP00000414961.1:p.Leu97Phe | |
| NM_000429.2:c.478C>T | NP_000420.1:p.Leu160Phe | |
| XM_005269842.3:c.478C>T | XP_005269899.1:p.Leu160Phe | |
| XM_005269843.3:c.355C>T | XP_005269900.1:p.Leu119Phe | |
| NM_000429.3:c.478C>T MANE Select | NP_000420.1:p.Leu160Phe |