HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2340574G>T , CM000678.2:g.2340574G>T | GRCh38 |
NC_000016.9:g.2390575G>T , CM000678.1:g.2390575G>T | GRCh37 |
NC_000016.8:g.2330576G>T | NCBI36 |
NG_011790.1:g.5173C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.-540C>A (ABCA3) MANE Select | ENSP00000301732.5:n.-540C>A | |
ENST00000640929.1:n.42+1243G>T (ABCA17P) | ||
ENST00000301732.9:c.-540C>A (ABCA3) | ENSP00000301732.5:n.-540C>A | |
ENST00000382381.7:c.-540C>A (ABCA3) | ENSP00000371818.3:n.-540C>A | |
ENST00000512848.5:n.182+1243G>T (ABCA17P) | ||
ENST00000563623.5:n.24C>A (ABCA3) | ||
NM_001089.2:c.-540C>A (ABCA3) | NP_001080.2:n.-540C>A | |
NM_001089.3:c.-540C>A (ABCA3) MANE Select | NP_001080.2:n.-540C>A |