HGVS | Genome Assembly |
---|---|
NC_000022.11:g.20888077A>G , CM000684.2:g.20888077A>G | GRCh38 |
NC_000022.10:g.21242365A>G , CM000684.1:g.21242365A>G | GRCh37 |
NC_000022.9:g.19572365A>G | NCBI36 |
NG_012152.1:g.34074A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000215730.12:c.*241A>G MANE Select | ENSP00000215730.6:n.*241A>G | |
ENST00000215730.11:c.*241A>G | ENSP00000215730.6:n.*241A>G | |
NM_004782.3:c.*241A>G | NP_004773.1:n.*241A>G | |
NM_004782.4:c.*241A>G MANE Select | NP_004773.1:n.*241A>G |