Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67584687A= , CM000673.2:g.67584687A= | GRCh38 |
| NC_000011.9:g.67352158A= , CM000673.1:g.67352158A= | GRCh37 |
| NC_000011.8:g.67108734A= | NCBI36 |
| NG_012075.1:g.6093A= , LRG_723:g.6093A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.147A= | ENSP00000381604.1:p.Leu49= | |
| ENST00000398606.10:c.147A= MANE Select | ENSP00000381607.3:p.Leu49= | |
| ENST00000646888.1:c.40A= | ENSP00000494477.1:p.Ile14= | |
| ENST00000398603.5:c.147A= | ENSP00000381604.1:p.Leu49= | |
| ENST00000398606.7:c.147A= | ENSP00000381607.3:p.Leu49= | |
| ENST00000489040.1:n.146A= | ||
| ENST00000494593.1:n.577A= | ||
| ENST00000498765.5:c.110A= | ||
| NM_000852.3:c.147A= , LRG_723t1:c.147A= | NP_000843.1:p.Leu49= | |
| NM_000852.4:c.147A= MANE Select | NP_000843.1:p.Leu49= |