HGVS | Genome Assembly |
---|---|
NC_000022.11:g.20888074C>A , CM000684.2:g.20888074C>A | GRCh38 |
NC_000022.10:g.21242362C>A , CM000684.1:g.21242362C>A | GRCh37 |
NC_000022.9:g.19572362C>A | NCBI36 |
NG_012152.1:g.34071C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000215730.12:c.*238C>A MANE Select | ENSP00000215730.6:n.*238C>A | |
ENST00000215730.11:c.*238C>A | ENSP00000215730.6:n.*238C>A | |
NM_004782.3:c.*238C>A | NP_004773.1:n.*238C>A | |
NM_004782.4:c.*238C>A MANE Select | NP_004773.1:n.*238C>A |