HGVS | Genome Assembly |
---|---|
NC_000011.10:g.62418912A>G , CM000673.2:g.62418912A>G | GRCh38 |
NC_000011.9:g.62186384A>G , CM000673.1:g.62186384A>G | GRCh37 |
NC_000011.8:g.61942960A>G | NCBI36 |
NG_021331.1:g.4878A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000534397.5:c.-51+2275A>G | ENSP00000432866.1:n.-51+2275A>G | |
XR_950170.1:n.378-2062T>C | ||
XR_950171.1:n.234-2062T>C | ||
XR_950172.1:n.234-2062T>C | ||
XR_950173.1:n.234-2062T>C | ||
XR_950174.1:n.234-2062T>C | ||
XR_001748247.1:n.348-2062T>C | ||
XR_001748248.1:n.453-2062T>C | ||
XR_001748249.1:n.459-2062T>C | ||
XR_001748250.1:n.455-2062T>C | ||
XR_001748252.1:n.460-2062T>C | ||
XR_001748253.1:n.180-2062T>C | ||
XR_001748254.1:n.461-2062T>C | ||
XR_002957250.1:n.451-2062T>C |