HGVS | Genome Assembly |
---|---|
NC_000023.11:g.116172001C>A , CM000685.2:g.116172001C>A | GRCh38 |
NC_000023.10:g.115303254C>A , CM000685.1:g.115303254C>A | GRCh37 |
NC_000023.9:g.115217282C>A | NCBI36 |
NG_016326.1:g.6297C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371906.5:c.-35-245C>A MANE Select | ENSP00000360973.4:n.-35-245C>A | |
ENST00000680409.1:n.189C>A | ||
ENST00000681852.1:c.-35-245C>A | ENSP00000505750.1:n.-35-245C>A | |
ENST00000371906.4:c.-35-245C>A | ENSP00000360973.4:n.-35-245C>A | |
NM_000686.4:c.-35-245C>A | NP_000677.2:n.-35-245C>A | |
XM_011537533.1:c.-35-245C>A | XP_011535835.1:n.-35-245C>A | |
NM_000686.5:c.-35-245C>A MANE Select | NP_000677.2:n.-35-245C>A | |
NM_001385624.1:c.-35-245C>A | NP_001372553.1:n.-35-245C>A |