HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2337224C>A , CM000678.2:g.2337224C>A | GRCh38 |
NC_000016.9:g.2387225C>A , CM000678.1:g.2387225C>A | GRCh37 |
NC_000016.8:g.2327226C>A | NCBI36 |
NG_011790.1:g.8523G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000301732.10:c.-539+3349G>T MANE Select | ENSP00000301732.5:n.-539+3349G>T | |
ENST00000301732.9:c.-539+3349G>T | ENSP00000301732.5:n.-539+3349G>T | |
ENST00000382381.7:c.-539+3349G>T | ENSP00000371818.3:n.-539+3349G>T | |
ENST00000563623.5:n.25+3349G>T | ||
NM_001089.2:c.-539+3349G>T | NP_001080.2:n.-539+3349G>T | |
NM_001089.3:c.-539+3349G>T MANE Select | NP_001080.2:n.-539+3349G>T |