HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19589847T>A , CM000686.2:g.19589847T>A | GRCh38 |
NC_000024.9:g.21751733T>A , CM000686.1:g.21751733T>A | GRCh37 |
NC_000024.8:g.20211121T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686158.1:n.590-236T>A | ||
ENST00000686905.1:n.1909T>A | ||
ENST00000693214.1:n.1997T>A | ||
ENST00000445715.6:n.491+235T>A | ||
ENST00000407724.7:n.836-236T>A | ||
ENST00000445715.5:n.492-236T>A | ||
ENST00000447202.2:n.2761T>A | ||
ENST00000447520.5:n.492-236T>A | ||
ENST00000459719.6:n.1763-236T>A | ||
ENST00000538014.2:n.2016T>A | ||
ENST00000585549.5:n.134+235T>A | ||
ENST00000587095.1:n.132+235T>A | ||
ENST00000588613.5:n.200+235T>A | ||
ENST00000589075.5:n.174-236T>A | ||
NR_045128.1:n.515+235T>A | ||
NR_045129.1:n.516-236T>A |