HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48410735C>T , CM000677.2:g.48410735C>T | GRCh38 |
NC_000015.9:g.48702932C>T , CM000677.1:g.48702932C>T | GRCh37 |
NC_000015.8:g.46490224C>T | NCBI36 |
NG_008805.2:g.240054G>A , LRG_778:g.240054G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000559133.6:c.*1679G>A | ENSP00000453958.2:n.*1679G>A | |
ENST00000682158.1:n.2252G>A | ||
ENST00000682170.1:n.3052G>A | ||
ENST00000682767.1:n.2168G>A | ||
ENST00000316623.10:c.*255G>A MANE Select | ENSP00000325527.5:n.*255G>A | |
ENST00000316623.9:c.*255G>A | ENSP00000325527.5:n.*255G>A | |
ENST00000559133.5:c.4240G>A | ||
NM_000138.4:c.*255G>A , LRG_778t1:c.*255G>A | NP_000129.3:n.*255G>A | |
NM_000138.5:c.*255G>A MANE Select | NP_000129.3:n.*255G>A |