HGVS | Genome Assembly |
---|---|
NC_000016.10:g.177089G>C , CM000678.2:g.177089G>C | GRCh38 |
NC_000016.9:g.227088G>C , CM000678.1:g.227088G>C | GRCh37 |
NC_000016.8:g.167088G>C | NCBI36 |
NG_000006.1:g.37952G>C | |
NG_059186.1:g.5439G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000320868.9:c.256G>C MANE Select | ENSP00000322421.5:p.Asp86His | |
ENST00000397797.1:c.160G>C | ENSP00000380899.1:p.Asp54His | |
ENST00000472694.1:n.392G>C | ||
ENST00000487791.1:n.225G>C | ||
NM_000558.4:c.256G>C | NP_000549.1:p.Asp86His | |
NM_000558.5:c.256G>C MANE Select | NP_000549.1:p.Asp86His |