Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67585140C= , CM000673.2:g.67585140C= | GRCh38 |
| NC_000011.9:g.67352611C= , CM000673.1:g.67352611C= | GRCh37 |
| NC_000011.8:g.67109187C= | NCBI36 |
| NG_012075.1:g.6546C= , LRG_723:g.6546C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398603.6:c.235C= | ENSP00000381604.1:p.Leu79= | |
| ENST00000398606.10:c.235C= MANE Select | ENSP00000381607.3:p.Leu79= | |
| ENST00000646888.1:c.128C= | ENSP00000494477.1:p.Ala43= | |
| ENST00000398603.5:c.235C= | ENSP00000381604.1:p.Leu79= | |
| ENST00000398606.7:c.235C= | ENSP00000381607.3:p.Leu79= | |
| ENST00000467591.1:n.346C= | ||
| ENST00000494593.1:n.1030C= | ||
| ENST00000498765.5:c.298C= | ||
| NM_000852.3:c.235C= , LRG_723t1:c.235C= | NP_000843.1:p.Leu79= | |
| NM_000852.4:c.235C= MANE Select | NP_000843.1:p.Leu79= |