HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55151903C>T , CM000681.2:g.55151903C>T | GRCh38 |
NC_000019.9:g.55663271C>T , CM000681.1:g.55663271C>T | GRCh37 |
NC_000019.8:g.60355083C>T | NCBI36 |
NG_007866.2:g.10830G>A , LRG_432:g.10830G>A | |
NG_011829.2:g.2336G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.564G>A MANE Select | ENSP00000341838.5:p.Val188= | |
ENST00000665070.1:c.597G>A | ENSP00000499482.1:p.Val199= | |
ENST00000344887.9:c.564G>A | ENSP00000341838.5:p.Val188= | |
ENST00000585806.5:n.563G>A | ||
ENST00000588882.1:c.489G>A | ENSP00000466729.1:p.Val163= | |
ENST00000589864.1:n.392G>A | ||
NM_000363.4:c.564G>A , LRG_432t1:c.564G>A | NP_000354.4:p.Val188= | |
NM_000363.5:c.564G>A MANE Select | NP_000354.4:p.Val188= |