HGVS | Genome Assembly |
---|---|
NC_000023.11:g.136973040T>C , CM000685.2:g.136973040T>C | GRCh38 |
NC_000023.10:g.136055199T>C , CM000685.1:g.136055199T>C | GRCh37 |
NC_000023.9:g.135882865T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000431464.6:n.521+47661T>C | ||
ENST00000650669.2:n.413-48372T>C | ||
ENST00000685550.1:n.389-29285T>C | ||
ENST00000685929.1:n.389-20446T>C | ||
ENST00000686432.1:n.459-48372T>C | ||
ENST00000687469.1:n.399-20446T>C | ||
ENST00000687978.1:n.829+47661T>C | ||
ENST00000688713.1:n.365-21807T>C | ||
ENST00000693626.1:n.357+63260T>C | ||
ENST00000693698.1:n.581-21807T>C | ||
ENST00000650669.1:n.413-48372T>C | ||
ENST00000424306.5:n.2053-20446T>C | ||
ENST00000426943.4:n.463+9589T>C | ||
ENST00000431464.5:n.439+47661T>C |