HGVS | Genome Assembly |
---|---|
NC_000006.12:g.29945994T>G , CM000668.2:g.29945994T>G | GRCh38 |
NC_000006.11:g.29913771T>G , CM000668.1:g.29913771T>G | GRCh37 |
NC_000006.10:g.30021750T>G | NCBI36 |
NG_029217.2:g.8530T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706901.1:c.*539T>G | ENSP00000516612.1:n.*539T>G | |
ENST00000706902.1:c.1093+713T>G | ENSP00000516613.1:n.1093+713T>G | |
ENST00000706903.1:c.*124+415T>G | ENSP00000516614.1:n.*124+415T>G | |
ENST00000706904.1:c.1093+713T>G | ENSP00000516615.1:n.1093+713T>G | |
ENST00000706905.1:c.*539T>G | ENSP00000516616.1:n.*539T>G |