HGVS | Genome Assembly |
---|---|
NC_000019.10:g.43551888G>T , CM000681.2:g.43551888G>T | GRCh38 |
NC_000019.9:g.44056040G>T , CM000681.1:g.44056040G>T | GRCh37 |
NC_000019.8:g.48747880G>T | NCBI36 |
NG_033799.1:g.28691C>A , LRG_784:g.28691C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262887.10:c.1082+129C>A MANE Select | ENSP00000262887.5:n.1082+129C>A | |
ENST00000262887.9:c.1082+129C>A | ENSP00000262887.4:n.1082+129C>A | |
ENST00000543982.5:c.989+129C>A | ENSP00000443671.1:n.989+129C>A | |
ENST00000597811.5:c.692+129C>A | ||
NM_006297.2:c.1082+129C>A , LRG_784t1:c.1082+129C>A | NP_006288.2:n.1082+129C>A | |
NM_006297.3:c.1082+129C>A MANE Select | NP_006288.2:n.1082+129C>A |