HGVS | Genome Assembly |
---|---|
NC_000008.11:g.16992989C>A , CM000670.2:g.16992989C>A | GRCh38 |
NC_000008.10:g.16850498C>A , CM000670.1:g.16850498C>A | GRCh37 |
NC_000008.9:g.16894869C>A | NCBI36 |
NG_015978.1:g.14177G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000180166.6:c.*83G>T MANE Select | ENSP00000180166.5:n.*83G>T | |
ENST00000180166.5:c.*83G>T | ENSP00000180166.5:n.*83G>T | |
ENST00000519941.1:c.423G>T | ||
NM_019851.2:c.*83G>T | NP_062825.1:n.*83G>T | |
NM_019851.3:c.*83G>T MANE Select | NP_062825.1:n.*83G>T |