HGVS | Genome Assembly |
---|---|
NC_000022.11:g.50578933C>A , CM000684.2:g.50578933C>A | GRCh38 |
NC_000022.10:g.51017362C>A , CM000684.1:g.51017362C>A | GRCh37 |
NC_000022.9:g.49364228C>A | NCBI36 |
NG_012643.1:g.4735G>T | |
NG_029213.1:g.9067G>T , LRG_855:g.9067G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000452668.1:n.319+103G>T | ||
ENST00000453634.5:c.328+103G>T | ENSP00000457031.1:n.328+103G>T | |
ENST00000492556.5:n.2189+103G>T | ||
NR_027928.2:n.1551+103G>T |