HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48410868T= , CM000677.2:g.48410868T= | GRCh38 |
NC_000015.9:g.48703065T= , CM000677.1:g.48703065T= | GRCh37 |
NC_000015.8:g.46490357T= | NCBI36 |
NG_008805.2:g.239921A= , LRG_778:g.239921A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.*1546A= | ENSP00000453958.2:n.*1546A= | |
ENST00000682158.1:n.2119A= | ||
ENST00000682170.1:n.2919A= | ||
ENST00000682767.1:n.2035A= | ||
ENST00000316623.10:c.*122A= MANE Select | ENSP00000325527.5:n.*122A= | |
ENST00000316623.9:c.*122A= | ENSP00000325527.5:n.*122A= | |
ENST00000559133.5:c.4107A= | ||
NM_000138.4:c.*122A= , LRG_778t1:c.*122A= | NP_000129.3:n.*122A= | |
NM_000138.5:c.*122A= MANE Select | NP_000129.3:n.*122A= |