Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586478A= , CM000673.2:g.67586478A= | GRCh38 |
| NC_000011.9:g.67353949A= , CM000673.1:g.67353949A= | GRCh37 |
| NC_000011.8:g.67110525A= | NCBI36 |
| NG_012075.1:g.7884A= , LRG_723:g.7884A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.426A= | ENSP00000381604.1:p.Ser142= | |
| ENST00000398606.10:c.534A= MANE Select | ENSP00000381607.3:p.Ser178= | |
| ENST00000646888.1:c.*250A= | ENSP00000494477.1:n.*250A= | |
| ENST00000398603.5:c.426A= | ENSP00000381604.1:p.Ser142= | |
| ENST00000398606.7:c.534A= | ENSP00000381607.3:p.Ser178= | |
| ENST00000467591.1:n.645A= | ||
| ENST00000494593.1:n.1506A= | ||
| ENST00000498765.5:c.597A= | ||
| NM_000852.3:c.534A= , LRG_723t1:c.534A= | NP_000843.1:p.Ser178= | |
| NM_000852.4:c.534A= MANE Select | NP_000843.1:p.Ser178= |