HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55151864C>A , CM000681.2:g.55151864C>A | GRCh38 |
NC_000019.9:g.55663232C>A , CM000681.1:g.55663232C>A | GRCh37 |
NC_000019.8:g.60355044C>A | NCBI36 |
NG_007866.2:g.10869G>T , LRG_432:g.10869G>T | |
NG_011829.2:g.2375G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.603G>T MANE Select | ENSP00000341838.5:p.Met201Ile | |
ENST00000665070.1:c.636G>T | ENSP00000499482.1:p.Met212Ile | |
ENST00000344887.9:c.603G>T | ENSP00000341838.5:p.Met201Ile | |
ENST00000585806.5:n.602G>T | ||
ENST00000588882.1:c.528G>T | ENSP00000466729.1:p.Met176Ile | |
ENST00000589864.1:n.431G>T | ||
NM_000363.4:c.603G>T , LRG_432t1:c.603G>T | NP_000354.4:p.Met201Ile | |
NM_000363.5:c.603G>T MANE Select | NP_000354.4:p.Met201Ile |