Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46312619C>T , CM000673.2:g.46312619C>T | GRCh38 |
| NC_000011.9:g.46334170C>T , CM000673.1:g.46334170C>T | GRCh37 |
| NC_000011.8:g.46290746C>T | NCBI36 |
| NG_033264.1:g.39982C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_052854.4:c.911C>T MANE Select | NP_443086.1:p.Ala304Val |
| ENST00000621158.5:c.911C>T MANE Select | ENSP00000481956.1:p.Ala304Val |
| NM_052854.3:c.911C>T | NP_443086.1:p.Ala304Val |
| ENST00000527342.1:n.434C>T | |
| ENST00000530518.1:c.191C>T | ENSP00000436574.1:p.Ala64Val |
| ENST00000621158.4:c.911C>T | ENSP00000481956.1:p.Ala304Val |
| XM_006718380.2:c.911C>T | XP_006718443.1:p.Ala304Val |
| XM_006718380.3:c.911C>T | XP_006718443.1:p.Ala304Val |