HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48411006T>C , CM000677.2:g.48411006T>C | GRCh38 |
NC_000015.9:g.48703203T>C , CM000677.1:g.48703203T>C | GRCh37 |
NC_000015.8:g.46490495T>C | NCBI36 |
NG_008805.2:g.239783A>G , LRG_778:g.239783A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.*1408A>G | ENSP00000453958.2:n.*1408A>G | |
ENST00000682158.1:n.1981A>G | ||
ENST00000682170.1:n.2781A>G | ||
ENST00000682767.1:n.1897A>G | ||
ENST00000316623.10:c.8600A>G MANE Select | ENSP00000325527.5:p.Gln2867Arg | |
ENST00000316623.9:c.8600A>G | ENSP00000325527.5:p.Gln2867Arg | |
ENST00000559133.5:c.3969A>G | ||
NM_000138.4:c.8600A>G , LRG_778t1:c.8600A>G | NP_000129.3:p.Gln2867Arg | |
NM_000138.5:c.8600A>G MANE Select | NP_000129.3:p.Gln2867Arg |