HGVS | Genome Assembly |
---|---|
NC_000023.11:g.108084627C>G , CM000685.2:g.108084627C>G | GRCh38 |
NC_000023.10:g.107327857C>G , CM000685.1:g.107327857C>G | GRCh37 |
NC_000023.9:g.107214513C>G | NCBI36 |
NG_012521.1:g.11992G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000217958.8:c.*347G>C MANE Select | ENSP00000217958.3:n.*347G>C | |
ENST00000217958.7:c.*347G>C | ENSP00000217958.3:n.*347G>C | |
ENST00000372296.5:c.*493G>C | ENSP00000361370.1:n.*493G>C | |
NM_002814.3:c.*347G>C | NP_002805.1:n.*347G>C | |
NM_170750.2:c.*493G>C | NP_736606.1:n.*493G>C | |
NM_002814.4:c.*347G>C MANE Select | NP_002805.1:n.*347G>C | |
NM_170750.3:c.*493G>C | NP_736606.1:n.*493G>C |