HGVS | Genome Assembly |
---|---|
NC_000005.10:g.55233031G>A , CM000667.2:g.55233031G>A | GRCh38 |
NC_000005.9:g.54528859G>A , CM000667.1:g.54528859G>A | GRCh37 |
NC_000005.8:g.54564616G>A | NCBI36 |
NG_034201.1:g.5687C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282572.5:c.381+112C>T MANE Select | ENSP00000282572.4:n.381+112C>T | |
ENST00000282572.4:c.381+112C>T | ENSP00000282572.4:n.381+112C>T | |
ENST00000501463.2:c.*97C>T | ENSP00000422485.1:n.*97C>T | |
NM_021147.4:c.381+112C>T | NP_066970.3:n.381+112C>T | |
NR_125346.1:n.687C>T | ||
NR_125347.1:n.580+107C>T | ||
NM_021147.5:c.381+112C>T MANE Select | NP_066970.3:n.381+112C>T | |
NR_125346.2:n.578C>T | ||
NR_125347.2:n.471+107C>T |