HGVS | Genome Assembly |
---|---|
NC_000015.10:g.40932038G>T , CM000677.2:g.40932038G>T | GRCh38 |
NC_000015.9:g.41224236G>T , CM000677.1:g.41224236G>T | GRCh37 |
NC_000015.8:g.39011528G>T | NCBI36 |
NG_046974.1:g.7706G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000249749.7:c.659-133G>T MANE Select | ENSP00000249749.5:n.659-133G>T | |
ENST00000249749.6:c.659-133G>T | ENSP00000249749.5:n.659-133G>T | |
ENST00000559440.1:n.888-133G>T | ||
NM_019074.3:c.659-133G>T | NP_061947.1:n.659-133G>T | |
NM_019074.4:c.659-133G>T MANE Select | NP_061947.1:n.659-133G>T |