Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52029784A= , CM000666.2:g.52029784A= | GRCh38 |
| NC_000004.11:g.52895950A= , CM000666.1:g.52895950A= | GRCh37 |
| NC_000004.10:g.52590707A= | NCBI36 |
| NG_008891.1:g.13536T= , LRG_204:g.13536T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000232.5:c.323T= MANE Select | NP_000223.1:p.Leu108= |
| ENST00000381431.10:c.323T= MANE Select | ENSP00000370839.6:p.Leu108= |
| NM_000232.4:c.323T= , LRG_204t1:c.323T= | NP_000223.1:p.Leu108= |
| ENST00000381431.9:c.323T= | ENSP00000370839.5:p.Leu108= |
| ENST00000506357.5:c.406T= | |
| ENST00000514133.1:c.400T= | ENSP00000425818.1:n.400T= |
| XM_006714049.2:c.26T= | XP_006714112.1:p.Leu9= |
| XM_011534403.1:c.113T= | XP_011532705.1:p.Leu38= |
| XM_011534404.1:c.26T= | XP_011532706.1:p.Leu9= |