Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.83508820C>T , CM000685.2:g.83508820C>T | GRCh38 |
| NC_000023.10:g.82763828C>T , CM000685.1:g.82763828C>T | GRCh37 |
| NC_000023.9:g.82650484C>T | NCBI36 |
| NG_009936.2:g.5560C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644024.2:c.496C>T MANE Select | ENSP00000495996.1:p.Leu166Phe | |
| ENST00000373200.4:c.496C>T | ENSP00000362296.2:p.Leu166Phe | |
| NM_000307.4:c.496C>T | NP_000298.3:p.Leu166Phe | |
| NM_000307.5:c.496C>T MANE Select | NP_000298.3:p.Leu166Phe |