HGVS | Genome Assembly |
---|---|
NC_000008.11:g.16992826T>A , CM000670.2:g.16992826T>A | GRCh38 |
NC_000008.10:g.16850335T>A , CM000670.1:g.16850335T>A | GRCh37 |
NC_000008.9:g.16894706T>A | NCBI36 |
NG_015978.1:g.14340A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000180166.6:c.*246A>T MANE Select | ENSP00000180166.5:n.*246A>T | |
ENST00000180166.5:c.*246A>T | ENSP00000180166.5:n.*246A>T | |
NM_019851.2:c.*246A>T | NP_062825.1:n.*246A>T | |
NM_019851.3:c.*246A>T MANE Select | NP_062825.1:n.*246A>T |