Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319231T>C , CM000673.2:g.6319231T>C | GRCh38 |
| NC_000011.9:g.6340461T>C , CM000673.1:g.6340461T>C | GRCh37 |
| NC_000011.8:g.6297037T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.718A>G MANE Select | ENSP00000307292.3:p.Thr240Ala | |
| ENST00000303927.3:c.718A>G | ENSP00000307292.3:p.Thr240Ala | |
| ENST00000524852.1:n.504A>G | ||
| ENST00000530979.1:c.814A>G | ENSP00000432047.1:p.Thr272Ala | |
| ENST00000532354.1:n.740A>G | ||
| NM_145040.2:c.718A>G | NP_659477.2:p.Thr240Ala | |
| XR_930997.1:n.720+1011T>C | ||
| XR_242848.4:n.91T>C | ||
| NM_145040.3:c.718A>G MANE Select | NP_659477.2:p.Thr240Ala |