HGVS | Genome Assembly |
---|---|
NC_000019.10:g.43552160T>A , CM000681.2:g.43552160T>A | GRCh38 |
NC_000019.9:g.44056312T>A , CM000681.1:g.44056312T>A | GRCh37 |
NC_000019.8:g.48748152T>A | NCBI36 |
NG_033799.1:g.28419A>T , LRG_784:g.28419A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262887.10:c.939A>T MANE Select | ENSP00000262887.5:p.Pro313= | |
ENST00000262887.9:c.939A>T | ENSP00000262887.4:p.Pro313= | |
ENST00000543982.5:c.846A>T | ENSP00000443671.1:p.Pro282= | |
ENST00000595789.5:n.1060A>T | ||
ENST00000597811.5:c.549A>T | ||
ENST00000598422.1:n.619A>T | ||
NM_006297.2:c.939A>T , LRG_784t1:c.939A>T | NP_006288.2:p.Pro313= | |
NM_006297.3:c.939A>T MANE Select | NP_006288.2:p.Pro313= |