HGVS | Genome Assembly |
---|---|
NC_000001.11:g.155290142T>A , CM000663.2:g.155290142T>A | GRCh38 |
NC_000001.10:g.155259933T>A , CM000663.1:g.155259933T>A | GRCh37 |
NC_000001.9:g.153526557T>A | NCBI36 |
NG_011677.1:g.16293A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000342741.6:c.*430A>T MANE Select | ENSP00000339933.4:n.*430A>T | |
ENST00000392414.7:c.*430A>T | ENSP00000376214.3:n.*430A>T | |
NM_000298.5:c.*430A>T | NP_000289.1:n.*430A>T | |
NM_181871.3:c.*430A>T | NP_870986.1:n.*430A>T | |
NM_000298.6:c.*430A>T MANE Select | NP_000289.1:n.*430A>T | |
NM_181871.4:c.*430A>T | NP_870986.1:n.*430A>T |