HGVS | Genome Assembly |
---|---|
NC_000015.10:g.80591754G>A , CM000677.2:g.80591754G>A | GRCh38 |
NC_000015.9:g.80884095G>A , CM000677.1:g.80884095G>A | GRCh37 |
NC_000015.8:g.78671150G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303329.9:c.2055+50G>A MANE Select | ENSP00000307479.4:n.2055+50G>A | |
ENST00000303329.8:c.2055+50G>A | ENSP00000307479.4:n.2055+50G>A | |
ENST00000527771.5:c.2022+50G>A | ENSP00000453792.1:n.2022+50G>A | |
ENST00000533983.5:c.2022+50G>A | ENSP00000453651.1:n.2022+50G>A | |
ENST00000610490.4:c.*353+50G>A | ENSP00000483762.1:n.*353+50G>A | |
ENST00000622346.4:c.2055+50G>A | ENSP00000479393.1:n.2055+50G>A | |
NM_014862.3:c.2055+50G>A | NP_055677.3:n.2055+50G>A | |
NM_014862.4:c.2055+50G>A MANE Select | NP_055677.3:n.2055+50G>A |