HGVS | Genome Assembly |
---|---|
NC_000011.10:g.4768948C>G , CM000673.2:g.4768948C>G | GRCh38 |
NC_000011.9:g.4790178C>G , CM000673.1:g.4790178C>G | GRCh37 |
NC_000011.8:g.4746754C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000300762.2:c.-153+1607C>G | ENSP00000300762.2:n.-153+1607C>G | |
ENST00000380390.6:c.-145+1607C>G MANE Select | ENSP00000369753.1:n.-145+1607C>G | |
ENST00000380390.5:c.-145+1607C>G | ENSP00000369753.1:n.-145+1607C>G | |
ENST00000477339.5:n.191+1607C>G | ||
NM_001384608.1:c.-153+1607C>G | NP_001371537.1:n.-153+1607C>G | |
NM_021801.5:c.-145+1607C>G MANE Select | NP_068573.2:n.-145+1607C>G |