HGVS | Genome Assembly |
---|---|
NC_000022.11:g.43946295C= , CM000684.2:g.43946295C= | GRCh38 |
NC_000022.10:g.44342175C= , CM000684.1:g.44342175C= | GRCh37 |
NC_000022.9:g.42673508C= | NCBI36 |
NG_008631.1:g.27557C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216180.8:c.1359C= MANE Select | ENSP00000216180.3:p.Ser453= | |
ENST00000216180.7:c.1359C= | ENSP00000216180.3:p.Ser453= | |
ENST00000406117.6:c.*849+1500C= | ENSP00000384668.2:n.*849+1500C= | |
ENST00000423180.2:c.1347C= | ENSP00000397987.2:p.Ser449= | |
NM_025225.2:c.1359C= | NP_079501.2:p.Ser453= | |
NM_025225.3:c.1359C= MANE Select | NP_079501.2:p.Ser453= |