HGVS | Genome Assembly |
---|---|
NC_000023.11:g.116172420T>A , CM000685.2:g.116172420T>A | GRCh38 |
NC_000023.10:g.115303673T>A , CM000685.1:g.115303673T>A | GRCh37 |
NC_000023.9:g.115217701T>A | NCBI36 |
NG_016326.1:g.6716T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371906.5:c.140T>A MANE Select | ENSP00000360973.4:p.Ile47Asn | |
ENST00000680409.1:n.608T>A | ||
ENST00000681852.1:c.140T>A | ENSP00000505750.1:p.Ile47Asn | |
ENST00000371906.4:c.140T>A | ENSP00000360973.4:p.Ile47Asn | |
NM_000686.4:c.140T>A | NP_000677.2:p.Ile47Asn | |
XM_011537533.1:c.140T>A | XP_011535835.1:p.Ile47Asn | |
NM_000686.5:c.140T>A MANE Select | NP_000677.2:p.Ile47Asn | |
NM_001385624.1:c.140T>A | NP_001372553.1:p.Ile47Asn |