HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48410071G>T , CM000677.2:g.48410071G>T | GRCh38 |
NC_000015.9:g.48702268G>T , CM000677.1:g.48702268G>T | GRCh37 |
NC_000015.8:g.46489560G>T | NCBI36 |
NG_008805.2:g.240718C>A , LRG_778:g.240718C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000682170.1:n.3716C>A | ||
ENST00000682767.1:n.2832C>A | ||
ENST00000316623.10:c.*919C>A MANE Select | ENSP00000325527.5:n.*919C>A | |
ENST00000316623.9:c.*919C>A | ENSP00000325527.5:n.*919C>A | |
NM_000138.4:c.*919C>A , LRG_778t1:c.*919C>A | NP_000129.3:n.*919C>A | |
NM_000138.5:c.*919C>A MANE Select | NP_000129.3:n.*919C>A |