HGVS | Genome Assembly |
---|---|
NC_000022.11:g.43946196A>C , CM000684.2:g.43946196A>C | GRCh38 |
NC_000022.10:g.44342076A>C , CM000684.1:g.44342076A>C | GRCh37 |
NC_000022.9:g.42673409A>C | NCBI36 |
NG_008631.1:g.27458A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000216180.8:c.1260A>C MANE Select | ENSP00000216180.3:p.Thr420= | |
ENST00000216180.7:c.1260A>C | ENSP00000216180.3:p.Thr420= | |
ENST00000406117.6:c.*849+1401A>C | ENSP00000384668.2:n.*849+1401A>C | |
ENST00000423180.2:c.1248A>C | ENSP00000397987.2:p.Thr416= | |
NM_025225.2:c.1260A>C | NP_079501.2:p.Thr420= | |
NM_025225.3:c.1260A>C MANE Select | NP_079501.2:p.Thr420= |