HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48408664A>T , CM000677.2:g.48408664A>T | GRCh38 |
NC_000015.9:g.48700861A>T , CM000677.1:g.48700861A>T | GRCh37 |
NC_000015.8:g.46488153A>T | NCBI36 |
NG_008805.2:g.242125T>A , LRG_778:g.242125T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000682170.1:n.5123T>A | ||
ENST00000682767.1:n.4239T>A | ||
ENST00000316623.10:c.*2326T>A MANE Select | ENSP00000325527.5:n.*2326T>A | |
ENST00000316623.9:c.*2326T>A | ENSP00000325527.5:n.*2326T>A | |
NM_000138.4:c.*2326T>A , LRG_778t1:c.*2326T>A | NP_000129.3:n.*2326T>A | |
NM_000138.5:c.*2326T>A MANE Select | NP_000129.3:n.*2326T>A |