HGVS | Genome Assembly |
---|---|
NC_000020.11:g.61531853G>A , CM000682.2:g.61531853G>A | GRCh38 |
NC_000020.10:g.60106909G>A , CM000682.1:g.60106909G>A | GRCh37 |
NC_000020.9:g.59540304G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614565.5:c.170-211710G>A MANE Select | ENSP00000484928.1:n.170-211710G>A | |
ENST00000614565.4:c.170-211710G>A | ENSP00000484928.1:n.170-211710G>A | |
NM_001252338.2:c.58+32361G>A | NP_001239267.1:n.58+32361G>A | |
NM_001794.4:c.170-211710G>A | NP_001785.2:n.170-211710G>A | |
NM_001794.5:c.170-211710G>A MANE Select | NP_001785.2:n.170-211710G>A |