Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814047G= , CM000664.2:g.218814047G= | GRCh38 |
| NC_000002.11:g.219678770G= , CM000664.1:g.219678770G= | GRCh37 |
| NC_000002.10:g.219387014G= | NCBI36 |
| NG_007959.1:g.37299G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1044G= MANE Select | ENSP00000258415.4:p.Leu348= | |
| ENST00000258415.8:c.1044G= | ENSP00000258415.4:p.Leu348= | |
| ENST00000445971.1:c.*505G= | ENSP00000404945.1:n.*505G= | |
| ENST00000466602.1:n.1166G= | ||
| ENST00000494263.5:n.1478G= | ||
| NM_000784.3:c.1044G= | NP_000775.1:p.Leu348= | |
| XM_017003488.2:c.624G= | XP_016858977.1:p.Leu208= | |
| NM_000784.4:c.1044G= MANE Select | NP_000775.1:p.Leu348= |