HGVS | Genome Assembly |
---|---|
NC_000019.10:g.43552267G>T , CM000681.2:g.43552267G>T | GRCh38 |
NC_000019.9:g.44056419G>T , CM000681.1:g.44056419G>T | GRCh37 |
NC_000019.8:g.48748259G>T | NCBI36 |
NG_033799.1:g.28312C>A , LRG_784:g.28312C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262887.10:c.832C>A MANE Select | ENSP00000262887.5:p.Pro278Thr | |
ENST00000262887.9:c.832C>A | ENSP00000262887.4:p.Pro278Thr | |
ENST00000543982.5:c.739C>A | ENSP00000443671.1:p.Pro247Thr | |
ENST00000595789.5:n.953C>A | ||
ENST00000597811.5:c.442C>A | ||
ENST00000598165.5:c.853C>A | ENSP00000470045.1:p.Pro285Thr | |
ENST00000598422.1:n.512C>A | ||
NM_006297.2:c.832C>A , LRG_784t1:c.832C>A | NP_006288.2:p.Pro278Thr | |
NM_006297.3:c.832C>A MANE Select | NP_006288.2:p.Pro278Thr |