HGVS | Genome Assembly |
---|---|
NC_000006.12:g.29945993C>G , CM000668.2:g.29945993C>G | GRCh38 |
NC_000006.11:g.29913770C>G , CM000668.1:g.29913770C>G | GRCh37 |
NC_000006.10:g.30021749C>G | NCBI36 |
NG_029217.2:g.8529C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706901.1:c.*538C>G | ENSP00000516612.1:n.*538C>G | |
ENST00000706902.1:c.1093+712C>G | ENSP00000516613.1:n.1093+712C>G | |
ENST00000706903.1:c.*124+414C>G | ENSP00000516614.1:n.*124+414C>G | |
ENST00000706904.1:c.1093+712C>G | ENSP00000516615.1:n.1093+712C>G | |
ENST00000706905.1:c.*538C>G | ENSP00000516616.1:n.*538C>G |