HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48410957T= , CM000677.2:g.48410957T= | GRCh38 |
NC_000015.9:g.48703154T= , CM000677.1:g.48703154T= | GRCh37 |
NC_000015.8:g.46490446T= | NCBI36 |
NG_008805.2:g.239832A= , LRG_778:g.239832A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.*1457A= | ENSP00000453958.2:n.*1457A= | |
ENST00000682158.1:n.2030A= | ||
ENST00000682170.1:n.2830A= | ||
ENST00000682767.1:n.1946A= | ||
ENST00000316623.10:c.*33A= MANE Select | ENSP00000325527.5:n.*33A= | |
ENST00000316623.9:c.*33A= | ENSP00000325527.5:n.*33A= | |
ENST00000559133.5:c.4018A= | ||
NM_000138.4:c.*33A= , LRG_778t1:c.*33A= | NP_000129.3:n.*33A= | |
NM_000138.5:c.*33A= MANE Select | NP_000129.3:n.*33A= |