HGVS | Genome Assembly |
---|---|
NC_000020.11:g.38363460G>C , CM000682.2:g.38363460G>C | GRCh38 |
NC_000020.10:g.36992114G>C , CM000682.1:g.36992114G>C | GRCh37 |
NC_000020.9:g.36425528G>C | NCBI36 |
NG_034239.1:g.22050G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000217407.3:c.653-515G>C MANE Select | ENSP00000217407.2:n.653-515G>C | |
ENST00000217407.2:c.653-515G>C | ENSP00000217407.2:n.653-515G>C | |
NM_004139.4:c.653-515G>C | NP_004130.2:n.653-515G>C | |
NM_004139.5:c.653-515G>C MANE Select | NP_004130.2:n.653-515G>C |