Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319000A>C , CM000673.2:g.6319000A>C | GRCh38 |
| NC_000011.9:g.6340230A>C , CM000673.1:g.6340230A>C | GRCh37 |
| NC_000011.8:g.6296806A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.*163T>G MANE Select | ENSP00000307292.3:n.*163T>G | |
| ENST00000303927.3:c.*163T>G | ENSP00000307292.3:n.*163T>G | |
| ENST00000532354.1:n.971T>G | ||
| NM_145040.2:c.*163T>G | NP_659477.2:n.*163T>G | |
| XR_930997.1:n.720+780A>C | ||
| NM_145040.3:c.*163T>G MANE Select | NP_659477.2:n.*163T>G |