Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586471T= , CM000673.2:g.67586471T= | GRCh38 |
| NC_000011.9:g.67353942T= , CM000673.1:g.67353942T= | GRCh37 |
| NC_000011.8:g.67110518T= | NCBI36 |
| NG_012075.1:g.7877T= , LRG_723:g.7877T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.419T= | ENSP00000381604.1:p.Leu140= | |
| ENST00000398606.10:c.527T= MANE Select | ENSP00000381607.3:p.Leu176= | |
| ENST00000646888.1:c.*243T= | ENSP00000494477.1:n.*243T= | |
| ENST00000398603.5:c.419T= | ENSP00000381604.1:p.Leu140= | |
| ENST00000398606.7:c.527T= | ENSP00000381607.3:p.Leu176= | |
| ENST00000467591.1:n.638T= | ||
| ENST00000494593.1:n.1499T= | ||
| ENST00000498765.5:c.590T= | ||
| NM_000852.3:c.527T= , LRG_723t1:c.527T= | NP_000843.1:p.Leu176= | |
| NM_000852.4:c.527T= MANE Select | NP_000843.1:p.Leu176= |