HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154123A>G , CM000681.2:g.55154123A>G | GRCh38 |
NC_000019.9:g.55665491A>G , CM000681.1:g.55665491A>G | GRCh37 |
NC_000019.8:g.60357303A>G | NCBI36 |
NG_007866.2:g.8610T>C , LRG_432:g.8610T>C | |
NG_011829.2:g.116T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.456T>C MANE Select | ENSP00000341838.5:p.Asp152= | |
ENST00000665070.1:c.489T>C | ENSP00000499482.1:p.Asp163= | |
ENST00000344887.9:c.456T>C | ENSP00000341838.5:p.Asp152= | |
ENST00000585806.5:n.455T>C | ||
ENST00000586669.5:n.464T>C | ||
ENST00000588882.1:c.381T>C | ENSP00000466729.1:p.Asp127= | |
ENST00000589864.1:n.284T>C | ||
NM_000363.4:c.456T>C , LRG_432t1:c.456T>C | NP_000354.4:p.Asp152= | |
NM_000363.5:c.456T>C MANE Select | NP_000354.4:p.Asp152= |