HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48410954G>T , CM000677.2:g.48410954G>T | GRCh38 |
NC_000015.9:g.48703151G>T , CM000677.1:g.48703151G>T | GRCh37 |
NC_000015.8:g.46490443G>T | NCBI36 |
NG_008805.2:g.239835C>A , LRG_778:g.239835C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000559133.6:c.*1460C>A | ENSP00000453958.2:n.*1460C>A | |
ENST00000682158.1:n.2033C>A | ||
ENST00000682170.1:n.2833C>A | ||
ENST00000682767.1:n.1949C>A | ||
ENST00000316623.10:c.*36C>A MANE Select | ENSP00000325527.5:n.*36C>A | |
ENST00000316623.9:c.*36C>A | ENSP00000325527.5:n.*36C>A | |
ENST00000559133.5:c.4021C>A | ||
NM_000138.4:c.*36C>A , LRG_778t1:c.*36C>A | NP_000129.3:n.*36C>A | |
NM_000138.5:c.*36C>A MANE Select | NP_000129.3:n.*36C>A |