HGVS | Genome Assembly |
---|---|
NC_000015.10:g.80152829G>A , CM000677.2:g.80152829G>A | GRCh38 |
NC_000015.9:g.80445171G>A , CM000677.1:g.80445171G>A | GRCh37 |
NC_000015.8:g.78232226G>A | NCBI36 |
NG_012833.1:g.4831G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000558767.6:c.-226G>A | ENSP00000507680.1:n.-226G>A | |
ENST00000261755.9:c.-42G>A | ENSP00000261755.5:n.-42G>A | |
ENST00000407106.5:c.-106G>A | ENSP00000385080.1:n.-106G>A | |
ENST00000537726.5:n.41G>A | ||
ENST00000558022.5:c.-29-197G>A | ENSP00000453152.1:n.-29-197G>A | |
ENST00000558767.5:n.36G>A | ||
XM_024449872.1:c.-106G>A | XP_024305640.1:n.-106G>A | |
NM_001374377.1:c.-106G>A | NP_001361306.1:n.-106G>A | |
NM_001374380.1:c.-42G>A | NP_001361309.1:n.-42G>A |