HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2340545G>C , CM000678.2:g.2340545G>C | GRCh38 |
NC_000016.9:g.2390546G>C , CM000678.1:g.2390546G>C | GRCh37 |
NC_000016.8:g.2330547G>C | NCBI36 |
NG_011790.1:g.5202C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.-539+28C>G (ABCA3) MANE Select | ENSP00000301732.5:n.-539+28C>G | |
ENST00000640929.1:n.42+1214G>C (ABCA17P) | ||
ENST00000301732.9:c.-539+28C>G (ABCA3) | ENSP00000301732.5:n.-539+28C>G | |
ENST00000382381.7:c.-539+28C>G (ABCA3) | ENSP00000371818.3:n.-539+28C>G | |
ENST00000512848.5:n.182+1214G>C (ABCA17P) | ||
ENST00000563623.5:n.25+28C>G (ABCA3) | ||
NM_001089.2:c.-539+28C>G (ABCA3) | NP_001080.2:n.-539+28C>G | |
NM_001089.3:c.-539+28C>G (ABCA3) MANE Select | NP_001080.2:n.-539+28C>G |