HGVS | Genome Assembly |
---|---|
NC_000021.9:g.35477121A>T , CM000683.2:g.35477121A>T | GRCh38 |
NC_000021.8:g.36849419A>T , CM000683.1:g.36849419A>T | GRCh37 |
NC_000021.7:g.35771289A>T | NCBI36 |
NG_011402.2:g.512590T>A , LRG_482:g.512590T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000467692.5:n.102-15096T>A | ||
ENST00000475045.6:c.-261-15096T>A | ENSP00000477072.1:n.-261-15096T>A | |
NR_073512.1:n.106-15096T>A |