Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586494C= , CM000673.2:g.67586494C= | GRCh38 |
| NC_000011.9:g.67353965C= , CM000673.1:g.67353965C= | GRCh37 |
| NC_000011.8:g.67110541C= | NCBI36 |
| NG_012075.1:g.7900C= , LRG_723:g.7900C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.442C= | ENSP00000381604.1:p.Leu148= | |
| ENST00000398606.10:c.550C= MANE Select | ENSP00000381607.3:p.Leu184= | |
| ENST00000646888.1:c.*266C= | ENSP00000494477.1:n.*266C= | |
| ENST00000398603.5:c.442C= | ENSP00000381604.1:p.Leu148= | |
| ENST00000398606.7:c.550C= | ENSP00000381607.3:p.Leu184= | |
| ENST00000467591.1:n.661C= | ||
| ENST00000494593.1:n.1522C= | ||
| ENST00000498765.5:c.613C= | ||
| NM_000852.3:c.550C= , LRG_723t1:c.550C= | NP_000843.1:p.Leu184= | |
| NM_000852.4:c.550C= MANE Select | NP_000843.1:p.Leu184= |