Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5232983A>T , CM000673.2:g.5232983A>T | GRCh38 |
| NC_000011.9:g.5254213A>T , CM000673.1:g.5254213A>T | GRCh37 |
| NC_000011.8:g.5210789A>T | NCBI36 |
| NG_000007.3:g.64633T>A | |
| NG_063112.2:g.15675T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000519.4:c.425T>A MANE Select | NP_000510.1:p.Leu142Gln |
| ENST00000650601.1:c.425T>A MANE Select | ENSP00000497529.1:p.Leu142Gln |
| NM_000519.3:c.425T>A | NP_000510.1:p.Leu142Gln |
| ENST00000292901.7:c.316-185T>A | ENSP00000292901.3:n.316-185T>A |
| ENST00000380299.3:c.425T>A | ENSP00000369654.3:p.Leu142Gln |
| ENST00000417377.1:c.202T>A | ENSP00000414741.1:p.Trp68Arg |
| ENST00000643122.1:c.425T>A | ENSP00000494708.1:p.Leu142Gln |