HGVS | Genome Assembly |
---|---|
NC_000019.10:g.43552263G>T , CM000681.2:g.43552263G>T | GRCh38 |
NC_000019.9:g.44056415G>T , CM000681.1:g.44056415G>T | GRCh37 |
NC_000019.8:g.48748255G>T | NCBI36 |
NG_033799.1:g.28316C>A , LRG_784:g.28316C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262887.10:c.836C>A MANE Select | ENSP00000262887.5:p.Thr279Asn | |
ENST00000262887.9:c.836C>A | ENSP00000262887.4:p.Thr279Asn | |
ENST00000543982.5:c.743C>A | ENSP00000443671.1:p.Thr248Asn | |
ENST00000595789.5:n.957C>A | ||
ENST00000597811.5:c.446C>A | ||
ENST00000598165.5:c.857C>A | ENSP00000470045.1:p.Thr286Asn | |
ENST00000598422.1:n.516C>A | ||
NM_006297.2:c.836C>A , LRG_784t1:c.836C>A | NP_006288.2:p.Thr279Asn | |
NM_006297.3:c.836C>A MANE Select | NP_006288.2:p.Thr279Asn |