HGVS | Genome Assembly |
---|---|
NC_000006.12:g.29946021C= , CM000668.2:g.29946021C= | GRCh38 |
NC_000006.11:g.29913798C= , CM000668.1:g.29913798C= | GRCh37 |
NC_000006.10:g.30021777C= | NCBI36 |
NG_029217.2:g.8557C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706901.1:c.*566C= | ENSP00000516612.1:n.*566C= | |
ENST00000706902.1:c.1093+740C= | ENSP00000516613.1:n.1093+740C= | |
ENST00000706903.1:c.*124+442C= | ENSP00000516614.1:n.*124+442C= | |
ENST00000706904.1:c.1093+740C= | ENSP00000516615.1:n.1093+740C= | |
ENST00000706905.1:c.*566C= | ENSP00000516616.1:n.*566C= |