HGVS | Genome Assembly |
---|---|
NC_000011.10:g.62418978C>A , CM000673.2:g.62418978C>A | GRCh38 |
NC_000011.9:g.62186450C>A , CM000673.1:g.62186450C>A | GRCh37 |
NC_000011.8:g.61943026C>A | NCBI36 |
NG_021331.1:g.4944C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000534397.5:c.-51+2341C>A | ENSP00000432866.1:n.-51+2341C>A | |
XR_950170.1:n.378-2128G>T | ||
XR_950171.1:n.234-2128G>T | ||
XR_950172.1:n.234-2128G>T | ||
XR_950173.1:n.234-2128G>T | ||
XR_950174.1:n.234-2128G>T | ||
XR_001748247.1:n.348-2128G>T | ||
XR_001748248.1:n.453-2128G>T | ||
XR_001748249.1:n.459-2128G>T | ||
XR_001748250.1:n.455-2128G>T | ||
XR_001748252.1:n.460-2128G>T | ||
XR_001748253.1:n.180-2128G>T | ||
XR_001748254.1:n.461-2128G>T | ||
XR_002957250.1:n.451-2128G>T |