HGVS | Genome Assembly |
---|---|
NC_000008.11:g.16992890G>A , CM000670.2:g.16992890G>A | GRCh38 |
NC_000008.10:g.16850399G>A , CM000670.1:g.16850399G>A | GRCh37 |
NC_000008.9:g.16894770G>A | NCBI36 |
NG_015978.1:g.14276C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000180166.6:c.*182C>T MANE Select | ENSP00000180166.5:n.*182C>T | |
ENST00000180166.5:c.*182C>T | ENSP00000180166.5:n.*182C>T | |
NM_019851.2:c.*182C>T | NP_062825.1:n.*182C>T | |
NM_019851.3:c.*182C>T MANE Select | NP_062825.1:n.*182C>T |