Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21176860A= , CM000674.2:g.21176860A= | GRCh38 |
| NC_000012.11:g.21329794A= , CM000674.1:g.21329794A= | GRCh37 |
| NC_000012.10:g.21221061A= | NCBI36 |
| NG_011745.1:g.50667A= , LRG_1022:g.50667A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.444A= MANE Select | ENSP00000256958.2:p.Leu148= | |
| ENST00000256958.2:c.444A= | ENSP00000256958.2:p.Leu148= | |
| ENST00000543498.5:c.510A= | ||
| NM_006446.4:c.444A= , LRG_1022t1:c.444A= | NP_006437.3:p.Leu148= | |
| NM_006446.5:c.444A= MANE Select | NP_006437.3:p.Leu148= |