HGVS | Genome Assembly |
---|---|
NC_000006.12:g.29946121T= , CM000668.2:g.29946121T= | GRCh38 |
NC_000006.11:g.29913898T= , CM000668.1:g.29913898T= | GRCh37 |
NC_000006.10:g.30021877T= | NCBI36 |
NG_029217.2:g.8657T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706901.1:c.*666T= | ENSP00000516612.1:n.*666T= | |
ENST00000706902.1:c.1093+840T= | ENSP00000516613.1:n.1093+840T= | |
ENST00000706903.1:c.*124+542T= | ENSP00000516614.1:n.*124+542T= | |
ENST00000706904.1:c.1093+840T= | ENSP00000516615.1:n.1093+840T= | |
ENST00000706905.1:c.*666T= | ENSP00000516616.1:n.*666T= |