HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48410848A= , CM000677.2:g.48410848A= | GRCh38 |
NC_000015.9:g.48703045A= , CM000677.1:g.48703045A= | GRCh37 |
NC_000015.8:g.46490337A= | NCBI36 |
NG_008805.2:g.239941T= , LRG_778:g.239941T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.*1566T= | ENSP00000453958.2:n.*1566T= | |
ENST00000682158.1:n.2139T= | ||
ENST00000682170.1:n.2939T= | ||
ENST00000682767.1:n.2055T= | ||
ENST00000316623.10:c.*142T= MANE Select | ENSP00000325527.5:n.*142T= | |
ENST00000316623.9:c.*142T= | ENSP00000325527.5:n.*142T= | |
ENST00000559133.5:c.4127T= | ||
NM_000138.4:c.*142T= , LRG_778t1:c.*142T= | NP_000129.3:n.*142T= | |
NM_000138.5:c.*142T= MANE Select | NP_000129.3:n.*142T= |