Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.15646895G>T , CM000672.2:g.15646895G>T | GRCh38 |
| NC_000010.10:g.15688894G>T , CM000672.1:g.15688894G>T | GRCh37 |
| NC_000010.9:g.15728900G>T | NCBI36 |
| NG_034116.1:g.78441C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003638.3:c.1158C>A MANE Select | NP_003629.2:p.Phe386Leu |
| ENST00000378076.4:c.1158C>A MANE Select | ENSP00000367316.3:p.Phe386Leu |
| NM_001291494.1:c.1113C>A | NP_001278423.1:p.Phe371Leu |
| NM_001291494.2:c.1113C>A | NP_001278423.1:p.Phe371Leu |
| NM_003638.2:c.1158C>A | NP_003629.2:p.Phe386Leu |
| ENST00000378076.3:c.1158C>A | ENSP00000367316.3:p.Phe386Leu |
| XM_011519752.1:c.1158C>A | XP_011518054.1:p.Phe386Leu |
| XM_011519752.2:c.1158C>A | XP_011518054.1:p.Phe386Leu |