HGVS | Genome Assembly |
---|---|
NC_000006.12:g.29946143G>C , CM000668.2:g.29946143G>C | GRCh38 |
NC_000006.11:g.29913920G>C , CM000668.1:g.29913920G>C | GRCh37 |
NC_000006.10:g.30021899G>C | NCBI36 |
NG_029217.2:g.8679G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706901.1:c.*688G>C | ENSP00000516612.1:n.*688G>C | |
ENST00000706902.1:c.1093+862G>C | ENSP00000516613.1:n.1093+862G>C | |
ENST00000706903.1:c.*124+564G>C | ENSP00000516614.1:n.*124+564G>C | |
ENST00000706904.1:c.1093+862G>C | ENSP00000516615.1:n.1093+862G>C | |
ENST00000706905.1:c.*688G>C | ENSP00000516616.1:n.*688G>C |