Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594359C>T , CM000679.2:g.56594359C>T | GRCh38 |
| NC_000017.10:g.54671720C>T , CM000679.1:g.54671720C>T | GRCh37 |
| NC_000017.9:g.52026719C>T | NCBI36 |
| NG_011958.1:g.5661C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005450.6:c.136C>T MANE Select | NP_005441.1:p.Leu46Phe |
| ENST00000332822.6:c.136C>T MANE Select | ENSP00000328181.4:p.Leu46Phe |
| NM_005450.4:c.136C>T | NP_005441.1:p.Leu46Phe |
| ENST00000332822.4:c.136C>T | ENSP00000328181.4:p.Leu46Phe |