Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445412A>T , CM000673.2:g.2445412A>T | GRCh38 |
| NC_000011.9:g.2466642A>T , CM000673.1:g.2466642A>T | GRCh37 |
| NC_000011.8:g.2423218A>T | NCBI36 |
| NG_008935.1:g.5422A>T , LRG_287:g.5422A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.53A>T | ENSP00000434560.2:p.His18Leu | |
| ENST00000646564.2:c.314A>T | ENSP00000495806.2:p.His105Leu | |
| ENST00000155840.12:c.314A>T MANE Select | ENSP00000155840.2:p.His105Leu | |
| ENST00000155840.9:c.314A>T | ENSP00000155840.2:p.His105Leu | |
| ENST00000345015.4:n.91A>T | ||
| ENST00000496887.6:c.53A>T | ENSP00000434560.1:p.His18Leu | |
| NM_000218.2:c.314A>T , LRG_287t1:c.314A>T | NP_000209.2:p.His105Leu | |
| NM_000218.3:c.314A>T MANE Select | NP_000209.2:p.His105Leu |