HGVS | Genome Assembly |
---|---|
NC_000013.11:g.30752304G>A , CM000675.2:g.30752304G>A | GRCh38 |
NC_000013.10:g.31326441G>A , CM000675.1:g.31326441G>A | GRCh37 |
NC_000013.9:g.30224441G>A | NCBI36 |
NG_011963.2:g.43827G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380490.5:c.241+182G>A MANE Select | ENSP00000369858.3:n.241+182G>A | |
ENST00000380490.4:c.241+182G>A | ENSP00000369858.3:n.241+182G>A | |
ENST00000617770.4:c.412+182G>A | ENSP00000479870.1:n.412+182G>A | |
NM_001204406.1:c.412+182G>A | NP_001191335.1:n.412+182G>A | |
NM_001629.3:c.241+182G>A | NP_001620.2:n.241+182G>A | |
XM_011535025.1:c.121+182G>A | XP_011533327.1:n.121+182G>A | |
XM_017020522.2:c.121+182G>A | XP_016876011.1:n.121+182G>A | |
NM_001204406.2:c.412+182G>A | NP_001191335.1:n.412+182G>A | |
NM_001629.4:c.241+182G>A MANE Select | NP_001620.2:n.241+182G>A |