Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218782419G= , CM000664.2:g.218782419G= | GRCh38 |
| NC_000002.11:g.219647142G= , CM000664.1:g.219647142G= | GRCh37 |
| NC_000002.10:g.219355386G= | NCBI36 |
| NG_007959.1:g.5671G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.237G= MANE Select | ENSP00000258415.4:p.Leu79= | |
| ENST00000258415.8:c.237G= | ENSP00000258415.4:p.Leu79= | |
| ENST00000445971.1:c.237G= | ENSP00000404945.1:p.Leu79= | |
| ENST00000466602.1:n.246G= | ||
| ENST00000494263.5:n.671G= | ||
| NM_000784.3:c.237G= | NP_000775.1:p.Leu79= | |
| XM_017003488.2:c.8G= | XP_016858977.1:p.Cys3= | |
| NM_000784.4:c.237G= MANE Select | NP_000775.1:p.Leu79= |