HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136973098G>A , CM000685.2:g.136973098G>A | GRCh38 |
NC_000023.10:g.136055257G>A , CM000685.1:g.136055257G>A | GRCh37 |
NC_000023.9:g.135882923G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000431464.6:n.521+47719G>A | ||
ENST00000650669.2:n.413-48314G>A | ||
ENST00000685550.1:n.389-29227G>A | ||
ENST00000685929.1:n.389-20388G>A | ||
ENST00000686432.1:n.459-48314G>A | ||
ENST00000687469.1:n.399-20388G>A | ||
ENST00000687978.1:n.829+47719G>A | ||
ENST00000688713.1:n.365-21749G>A | ||
ENST00000693626.1:n.357+63318G>A | ||
ENST00000693698.1:n.581-21749G>A | ||
ENST00000650669.1:n.413-48314G>A | ||
ENST00000424306.5:n.2053-20388G>A | ||
ENST00000426943.4:n.463+9647G>A | ||
ENST00000431464.5:n.439+47719G>A |