Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55007117G>C , CM000663.2:g.55007117G>C | GRCh38 |
| NC_000001.10:g.55472790G>C , CM000663.1:g.55472790G>C | GRCh37 |
| NC_000001.9:g.55245378G>C | NCBI36 |
| NG_008965.1:g.13174G>C | |
| NG_008965.2:g.13185G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_057176.3:c.393G>C MANE Select | NP_476517.1:p.Leu131Phe |
| ENST00000651561.1:c.393G>C MANE Select | ENSP00000498282.1:p.Leu131Phe |
| NM_057176.2:c.393G>C | NP_476517.1:p.Leu131Phe |
| ENST00000371265.4:c.393G>C | ENSP00000360312.4:p.Leu131Phe |
| XM_006710883.2:c.162G>C | XP_006710946.1:p.Leu54Phe |