HGVS | Genome Assembly |
---|---|
NC_000013.11:g.30738425A>G , CM000675.2:g.30738425A>G | GRCh38 |
NC_000013.10:g.31312562A>G , CM000675.1:g.31312562A>G | GRCh37 |
NC_000013.9:g.30210562A>G | NCBI36 |
NG_011963.2:g.29948A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380490.5:c.70+2750A>G MANE Select | ENSP00000369858.3:n.70+2750A>G | |
ENST00000380490.4:c.70+2750A>G | ENSP00000369858.3:n.70+2750A>G | |
ENST00000617770.4:c.241+2750A>G | ENSP00000479870.1:n.241+2750A>G | |
NM_001204406.1:c.241+2750A>G | NP_001191335.1:n.241+2750A>G | |
NM_001629.3:c.70+2750A>G | NP_001620.2:n.70+2750A>G | |
XM_011535024.1:c.70+2750A>G | XP_011533326.1:n.70+2750A>G | |
NM_001204406.2:c.241+2750A>G | NP_001191335.1:n.241+2750A>G | |
NM_001629.4:c.70+2750A>G MANE Select | NP_001620.2:n.70+2750A>G |