HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48411026A>G , CM000677.2:g.48411026A>G | GRCh38 |
NC_000015.9:g.48703223A>G , CM000677.1:g.48703223A>G | GRCh37 |
NC_000015.8:g.46490515A>G | NCBI36 |
NG_008805.2:g.239763T>C , LRG_778:g.239763T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.*1388T>C | ENSP00000453958.2:n.*1388T>C | |
ENST00000682158.1:n.1961T>C | ||
ENST00000682170.1:n.2761T>C | ||
ENST00000682767.1:n.1877T>C | ||
ENST00000316623.10:c.8580T>C MANE Select | ENSP00000325527.5:p.Asp2860= | |
ENST00000316623.9:c.8580T>C | ENSP00000325527.5:p.Asp2860= | |
ENST00000559133.5:c.3949T>C | ||
NM_000138.4:c.8580T>C , LRG_778t1:c.8580T>C | NP_000129.3:p.Asp2860= | |
NM_000138.5:c.8580T>C MANE Select | NP_000129.3:p.Asp2860= |