HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37734379C>A , CM000684.2:g.37734379C>A | GRCh38 |
NC_000022.10:g.38130386C>A , CM000684.1:g.38130386C>A | GRCh37 |
NC_000022.9:g.36460332C>A | NCBI36 |
NG_012857.1:g.42392C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000644935.1:c.4063-20C>A MANE Select | ENSP00000496394.1:n.4063-20C>A | |
ENST00000344404.10:c.*3546-20C>A | ENSP00000340312.6:n.*3546-20C>A | |
ENST00000406386.7:c.4063-20C>A | ENSP00000384312.3:n.4063-20C>A | |
NM_001039141.2:c.4063-20C>A | NP_001034230.1:n.4063-20C>A | |
XM_011530646.1:c.512-4020G>T | XP_011528948.1:n.512-4020G>T | |
NM_001039141.3:c.4063-20C>A MANE Select | NP_001034230.1:n.4063-20C>A |