HGVS | Genome Assembly |
---|---|
NC_000005.10:g.55233023C>G , CM000667.2:g.55233023C>G | GRCh38 |
NC_000005.9:g.54528851C>G , CM000667.1:g.54528851C>G | GRCh37 |
NC_000005.8:g.54564608C>G | NCBI36 |
NG_034201.1:g.5695G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282572.5:c.381+120G>C MANE Select | ENSP00000282572.4:n.381+120G>C | |
ENST00000282572.4:c.381+120G>C | ENSP00000282572.4:n.381+120G>C | |
ENST00000501463.2:c.*105G>C | ENSP00000422485.1:n.*105G>C | |
NM_021147.4:c.381+120G>C | NP_066970.3:n.381+120G>C | |
NR_125346.1:n.695G>C | ||
NR_125347.1:n.580+115G>C | ||
NM_021147.5:c.381+120G>C MANE Select | NP_066970.3:n.381+120G>C | |
NR_125346.2:n.586G>C | ||
NR_125347.2:n.471+115G>C |