HGVS | Genome Assembly |
---|---|
NC_000001.11:g.192811778T>G , CM000663.2:g.192811778T>G | GRCh38 |
NC_000001.10:g.192780908T>G , CM000663.1:g.192780908T>G | GRCh37 |
NC_000001.9:g.191047531T>G | NCBI36 |
NG_012800.1:g.7740T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000235382.7:c.*182T>G MANE Select | ENSP00000235382.5:n.*182T>G | |
ENST00000235382.6:c.*182T>G | ENSP00000235382.5:n.*182T>G | |
NM_002923.3:c.*182T>G | NP_002914.1:n.*182T>G | |
NM_002923.4:c.*182T>G MANE Select | NP_002914.1:n.*182T>G |