HGVS | Genome Assembly |
---|---|
NC_000022.11:g.20888386A>G , CM000684.2:g.20888386A>G | GRCh38 |
NC_000022.10:g.21242674A>G , CM000684.1:g.21242674A>G | GRCh37 |
NC_000022.9:g.19572674A>G | NCBI36 |
NG_012152.1:g.34383A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000215730.12:c.*550A>G MANE Select | ENSP00000215730.6:n.*550A>G | |
ENST00000215730.11:c.*550A>G | ENSP00000215730.6:n.*550A>G | |
NM_004782.3:c.*550A>G | NP_004773.1:n.*550A>G | |
NM_004782.4:c.*550A>G MANE Select | NP_004773.1:n.*550A>G |