HGVS | Genome Assembly |
---|---|
NC_000020.11:g.46011436C>T , CM000682.2:g.46011436C>T | GRCh38 |
NC_000020.10:g.44640075C>T , CM000682.1:g.44640075C>T | GRCh37 |
NC_000020.9:g.44073482C>T | NCBI36 |
NG_011468.1:g.7529C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372330.3:c.823+120C>T MANE Select | ENSP00000361405.3:n.823+120C>T | |
NM_004994.2:c.823+120C>T | NP_004985.2:n.823+120C>T | |
NM_004994.3:c.823+120C>T MANE Select | NP_004985.2:n.823+120C>T |