HGVS | Genome Assembly |
---|---|
NC_000020.11:g.23637607G>A , CM000682.2:g.23637607G>A | GRCh38 |
NC_000020.10:g.23618244G>A , CM000682.1:g.23618244G>A | GRCh37 |
NC_000020.9:g.23566244G>A | NCBI36 |
NG_012887.2:g.5331C>T | |
NG_012887.3:g.5331C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376925.8:c.243+13C>T MANE Select | ENSP00000366124.3:n.243+13C>T | |
ENST00000376925.7:c.243+13C>T | ENSP00000366124.3:n.243+13C>T | |
ENST00000398409.1:c.243+13C>T | ENSP00000381446.1:n.243+13C>T | |
ENST00000398411.5:c.243+13C>T | ENSP00000381448.1:n.243+13C>T | |
NM_000099.3:c.243+13C>T | NP_000090.1:n.243+13C>T | |
NM_001288614.1:c.243+13C>T | NP_001275543.1:n.243+13C>T | |
NM_000099.4:c.243+13C>T MANE Select | NP_000090.1:n.243+13C>T | |
NM_001288614.2:c.243+13C>T | NP_001275543.1:n.243+13C>T |