HGVS | Genome Assembly |
---|---|
NC_000008.11:g.24956459C>A , CM000670.2:g.24956459C>A | GRCh38 |
NC_000008.10:g.24813973C>A , CM000670.1:g.24813973C>A | GRCh37 |
NC_000008.9:g.24869890C>A | NCBI36 |
NG_008492.1:g.5159G>T , LRG_259:g.5159G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000610854.2:c.57G>T MANE Select | ENSP00000482169.2:p.Val19= | |
ENST00000610854.1:c.57G>T | ENSP00000482169.1:p.Val19= | |
ENST00000615973.1:n.263G>T | ||
ENST00000619417.1:c.57G>T | ENSP00000483690.1:p.Val19= | |
NM_006158.4:c.57G>T , LRG_259t1:c.57G>T | NP_006149.2:p.Val19= | |
NM_006158.5:c.57G>T MANE Select | NP_006149.2:p.Val19= |