HGVS | Genome Assembly |
---|---|
NC_000019.10:g.43551834G>A , CM000681.2:g.43551834G>A | GRCh38 |
NC_000019.9:g.44055986G>A , CM000681.1:g.44055986G>A | GRCh37 |
NC_000019.8:g.48747826G>A | NCBI36 |
NG_033799.1:g.28745C>T , LRG_784:g.28745C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262887.10:c.1083-147C>T MANE Select | ENSP00000262887.5:n.1083-147C>T | |
ENST00000262887.9:c.1083-147C>T | ENSP00000262887.4:n.1083-147C>T | |
ENST00000543982.5:c.990-147C>T | ENSP00000443671.1:n.990-147C>T | |
ENST00000597811.5:c.693-147C>T | ||
NM_006297.2:c.1083-147C>T , LRG_784t1:c.1083-147C>T | NP_006288.2:n.1083-147C>T | |
NM_006297.3:c.1083-147C>T MANE Select | NP_006288.2:n.1083-147C>T |