HGVS | Genome Assembly |
---|---|
NC_000012.12:g.62217038C>T , CM000674.2:g.62217038C>T | GRCh38 |
NC_000012.11:g.62610819C>T , CM000674.1:g.62610819C>T | GRCh37 |
NC_000012.10:g.60897086C>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000547919.1:n.194-9788G>A | ||
ENST00000549379.5:c.-212+41725G>A | ENSP00000447584.1:n.-212+41725G>A | |
ENST00000549456.5:n.425-9788G>A | ||
ENST00000551619.5:c.-130+41725G>A | ENSP00000447305.1:n.-130+41725G>A | |
ENST00000552075.5:c.2+41725G>A | ENSP00000449516.1:n.2+41725G>A | |
XM_011538273.1:c.-130+41725G>A | XP_011536575.1:n.-130+41725G>A | |
XM_024448962.1:c.146+41725G>A | XP_024304730.1:n.146+41725G>A | |
XM_024448963.1:c.2+41725G>A | XP_024304731.1:n.2+41725G>A |