HGVS | Genome Assembly |
---|---|
NC_000012.12:g.62216976T>C , CM000674.2:g.62216976T>C | GRCh38 |
NC_000012.11:g.62610757T>C , CM000674.1:g.62610757T>C | GRCh37 |
NC_000012.10:g.60897024T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000547919.1:n.194-9726A>G | ||
ENST00000549379.5:c.-212+41787A>G | ENSP00000447584.1:n.-212+41787A>G | |
ENST00000549456.5:n.425-9726A>G | ||
ENST00000551619.5:c.-130+41787A>G | ENSP00000447305.1:n.-130+41787A>G | |
ENST00000552075.5:c.2+41787A>G | ENSP00000449516.1:n.2+41787A>G | |
XM_011538273.1:c.-130+41787A>G | XP_011536575.1:n.-130+41787A>G | |
XM_024448962.1:c.146+41787A>G | XP_024304730.1:n.146+41787A>G | |
XM_024448963.1:c.2+41787A>G | XP_024304731.1:n.2+41787A>G |