HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48410946C>A , CM000677.2:g.48410946C>A | GRCh38 |
NC_000015.9:g.48703143C>A , CM000677.1:g.48703143C>A | GRCh37 |
NC_000015.8:g.46490435C>A | NCBI36 |
NG_008805.2:g.239843G>T , LRG_778:g.239843G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000559133.6:c.*1468G>T | ENSP00000453958.2:n.*1468G>T | |
ENST00000682158.1:n.2041G>T | ||
ENST00000682170.1:n.2841G>T | ||
ENST00000682767.1:n.1957G>T | ||
ENST00000316623.10:c.*44G>T MANE Select | ENSP00000325527.5:n.*44G>T | |
ENST00000316623.9:c.*44G>T | ENSP00000325527.5:n.*44G>T | |
ENST00000559133.5:c.4029G>T | ||
NM_000138.4:c.*44G>T , LRG_778t1:c.*44G>T | NP_000129.3:n.*44G>T | |
NM_000138.5:c.*44G>T MANE Select | NP_000129.3:n.*44G>T |