HGVS | Genome Assembly |
---|---|
NC_000022.11:g.35381625G>A , CM000684.2:g.35381625G>A | GRCh38 |
NC_000022.10:g.35777618G>A , CM000684.1:g.35777618G>A | GRCh37 |
NC_000022.9:g.34107618G>A | NCBI36 |
NG_023030.1:g.5559G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216117.9:c.23+429G>A MANE Select | ENSP00000216117.8:n.23+429G>A | |
ENST00000481190.2:c.156+296G>A | ENSP00000503987.1:n.156+296G>A | |
ENST00000677931.1:c.23+429G>A | ENSP00000502849.1:n.23+429G>A | |
ENST00000679074.1:c.23+429G>A | ENSP00000503459.1:n.23+429G>A | |
ENST00000216117.8:c.23+429G>A | ENSP00000216117.8:n.23+429G>A | |
ENST00000412893.5:c.23+429G>A | ENSP00000413316.1:n.23+429G>A | |
ENST00000481190.1:n.237+296G>A | ||
NM_002133.2:c.23+429G>A | NP_002124.1:n.23+429G>A | |
NM_002133.3:c.23+429G>A MANE Select | NP_002124.1:n.23+429G>A |