HGVS | Genome Assembly |
---|---|
NC_000006.12:g.29946045C= , CM000668.2:g.29946045C= | GRCh38 |
NC_000006.11:g.29913822C= , CM000668.1:g.29913822C= | GRCh37 |
NC_000006.10:g.30021801C= | NCBI36 |
NG_029217.2:g.8581C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706901.1:c.*590C= | ENSP00000516612.1:n.*590C= | |
ENST00000706902.1:c.1093+764C= | ENSP00000516613.1:n.1093+764C= | |
ENST00000706903.1:c.*124+466C= | ENSP00000516614.1:n.*124+466C= | |
ENST00000706904.1:c.1093+764C= | ENSP00000516615.1:n.1093+764C= | |
ENST00000706905.1:c.*590C= | ENSP00000516616.1:n.*590C= |