Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43172104C= , CM000683.2:g.43172104C= | GRCh38 |
| NG_009823.1:g.8074C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000394.4:c.346C= MANE Select | NP_000385.1:p.Arg116= |
| ENST00000291554.6:c.346C= MANE Select | ENSP00000291554.2:p.Arg116= |
| NM_000394.3:c.346C= | NP_000385.1:p.Arg116= |
| NM_001363766.1:c.235C= | NP_001350695.1:p.Arg79= |
| ENST00000398132.1:c.235C= | ENSP00000381200.1:p.Arg79= |
| ENST00000398133.5:c.286C= | ENSP00000381201.1:p.Arg96= |
| ENST00000468016.1:n.447C= | |
| ENST00000482775.1:n.427C= | |
| XM_005261093.2:c.235C= | XP_005261150.1:p.Arg79= |