HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4863164T>G , CM000666.2:g.4863164T>G | GRCh38 |
NC_000004.11:g.4864891T>G , CM000666.1:g.4864891T>G | GRCh37 |
NC_000004.10:g.4915792T>G | NCBI36 |
NG_008121.1:g.8500T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382723.5:c.*21T>G MANE Select | ENSP00000372170.4:n.*21T>G | |
ENST00000382723.4:c.*21T>G | ENSP00000372170.4:n.*21T>G | |
NM_002448.3:c.*21T>G MANE Select | NP_002439.2:n.*21T>G |