HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38675807A= , CM000685.2:g.38675807A= | GRCh38 |
NC_000023.10:g.38535061A= , CM000685.1:g.38535061A= | GRCh37 |
NC_000023.9:g.38420005A= | NCBI36 |
NG_009160.1:g.119331A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378482.7:c.544A= MANE Select | ENSP00000367743.2:p.Asn182= | |
ENST00000286824.6:c.595A= | ENSP00000286824.6:p.Asn199= | |
ENST00000378482.6:c.544A= | ENSP00000367743.2:p.Asn182= | |
ENST00000419600.3:n.488A= | ||
ENST00000465127.1:c.634A= | ENSP00000417050.1:p.Asn212= | |
ENST00000471410.5:c.*570A= | ENSP00000419290.1:n.*570A= | |
ENST00000475216.5:c.*537A= | ENSP00000418586.1:n.*537A= | |
ENST00000488893.5:n.727A= | ||
NM_004615.3:c.544A= | NP_004606.2:p.Asn182= | |
NM_004615.4:c.544A= MANE Select | NP_004606.2:p.Asn182= |