HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48411070C>T , CM000677.2:g.48411070C>T | GRCh38 |
NC_000015.9:g.48703267C>T , CM000677.1:g.48703267C>T | GRCh37 |
NC_000015.8:g.46490559C>T | NCBI36 |
NG_008805.2:g.239719G>A , LRG_778:g.239719G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.*1344G>A | ENSP00000453958.2:n.*1344G>A | |
ENST00000682158.1:n.1917G>A | ||
ENST00000682170.1:n.2717G>A | ||
ENST00000682767.1:n.1833G>A | ||
ENST00000316623.10:c.8536G>A MANE Select | ENSP00000325527.5:p.Glu2846Lys | |
ENST00000316623.9:c.8536G>A | ENSP00000325527.5:p.Glu2846Lys | |
ENST00000559133.5:c.3905G>A | ||
NM_000138.4:c.8536G>A , LRG_778t1:c.8536G>A | NP_000129.3:p.Glu2846Lys | |
NM_000138.5:c.8536G>A MANE Select | NP_000129.3:p.Glu2846Lys |