HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48411009A>G , CM000677.2:g.48411009A>G | GRCh38 |
NC_000015.9:g.48703206A>G , CM000677.1:g.48703206A>G | GRCh37 |
NC_000015.8:g.46490498A>G | NCBI36 |
NG_008805.2:g.239780T>C , LRG_778:g.239780T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.*1405T>C | ENSP00000453958.2:n.*1405T>C | |
ENST00000682158.1:n.1978T>C | ||
ENST00000682170.1:n.2778T>C | ||
ENST00000682767.1:n.1894T>C | ||
ENST00000316623.10:c.8597T>C MANE Select | ENSP00000325527.5:p.Ile2866Thr | |
ENST00000316623.9:c.8597T>C | ENSP00000325527.5:p.Ile2866Thr | |
ENST00000559133.5:c.3966T>C | ||
NM_000138.4:c.8597T>C , LRG_778t1:c.8597T>C | NP_000129.3:p.Ile2866Thr | |
NM_000138.5:c.8597T>C MANE Select | NP_000129.3:p.Ile2866Thr |