Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227071T>A , CM000673.2:g.5227071T>A | GRCh38 |
| NC_000011.9:g.5248301T>A , CM000673.1:g.5248301T>A | GRCh37 |
| NC_000011.8:g.5204877T>A | NCBI36 |
| NG_000007.3:g.70545A>T | |
| NG_059281.1:g.5001A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.-50A>T MANE Select | NP_000509.1:n.-50A>T |
| ENST00000335295.4:c.-50A>T MANE Select | ENSP00000333994.3:n.-50A>T |
| NM_000518.4:c.-50A>T | NP_000509.1:n.-50A>T |
| ENST00000380315.2:c.-18-32A>T | ENSP00000369671.2:n.-18-32A>T |
| ENST00000485743.1:n.2A>T | |
| ENST00000633227.1:c.-50A>T | ENSP00000488004.1:n.-50A>T |
| ENST00000647020.1:c.-50A>T | ENSP00000494175.1:n.-50A>T |