HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38675825A>C , CM000685.2:g.38675825A>C | GRCh38 |
NC_000023.10:g.38535079A>C , CM000685.1:g.38535079A>C | GRCh37 |
NC_000023.9:g.38420023A>C | NCBI36 |
NG_009160.1:g.119349A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378482.7:c.562A>C MANE Select | ENSP00000367743.2:p.Asn188His | |
ENST00000286824.6:c.613A>C | ENSP00000286824.6:p.Asn205His | |
ENST00000378482.6:c.562A>C | ENSP00000367743.2:p.Asn188His | |
ENST00000419600.3:n.506A>C | ||
ENST00000465127.1:c.652A>C | ENSP00000417050.1:p.Asn218His | |
ENST00000471410.5:c.*588A>C | ENSP00000419290.1:n.*588A>C | |
ENST00000475216.5:c.*555A>C | ENSP00000418586.1:n.*555A>C | |
NM_004615.3:c.562A>C | NP_004606.2:p.Asn188His | |
NM_004615.4:c.562A>C MANE Select | NP_004606.2:p.Asn188His |