HGVS | Genome Assembly |
---|---|
NC_000002.12:g.26135263T>G , CM000664.2:g.26135263T>G | GRCh38 |
NC_000002.11:g.26358132T>G , CM000664.1:g.26358132T>G | GRCh37 |
NC_000002.10:g.26211636T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264710.5:c.*242T>G MANE Select | ENSP00000264710.4:n.*242T>G | |
ENST00000264710.4:c.*242T>G | ENSP00000264710.4:n.*242T>G | |
ENST00000495146.5:n.1208T>G | ||
NM_016131.4:c.*242T>G | NP_057215.3:n.*242T>G | |
XM_024452565.1:c.*242T>G | XP_024308333.1:n.*242T>G | |
NM_016131.5:c.*242T>G MANE Select | NP_057215.3:n.*242T>G |