HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2289311G>T , CM000678.2:g.2289311G>T | GRCh38 |
NC_000016.9:g.2339312G>T , CM000678.1:g.2339312G>T | GRCh37 |
NC_000016.8:g.2279313G>T | NCBI36 |
NG_011790.1:g.56436C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.2700+123C>A MANE Select | ENSP00000301732.5:n.2700+123C>A | |
ENST00000301732.9:c.2700+123C>A | ENSP00000301732.5:n.2700+123C>A | |
ENST00000382381.7:c.2526+123C>A | ENSP00000371818.3:n.2526+123C>A | |
ENST00000563623.5:n.3386C>A | ||
NM_001089.2:c.2700+123C>A | NP_001080.2:n.2700+123C>A | |
NM_001089.3:c.2700+123C>A MANE Select | NP_001080.2:n.2700+123C>A |