Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319220A>G , CM000673.2:g.6319220A>G | GRCh38 |
| NC_000011.9:g.6340450A>G , CM000673.1:g.6340450A>G | GRCh37 |
| NC_000011.8:g.6297026A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.729T>C MANE Select | ENSP00000307292.3:p.Asp243= | |
| ENST00000303927.3:c.729T>C | ENSP00000307292.3:p.Asp243= | |
| ENST00000524852.1:n.515T>C | ||
| ENST00000530979.1:c.825T>C | ENSP00000432047.1:p.Asp275= | |
| ENST00000532354.1:n.751T>C | ||
| NM_145040.2:c.729T>C | NP_659477.2:p.Asp243= | |
| XR_930997.1:n.720+1000A>G | ||
| XR_242848.4:n.80A>G | ||
| NM_145040.3:c.729T>C MANE Select | NP_659477.2:p.Asp243= |