HGVS | Genome Assembly |
---|---|
NC_000010.11:g.16836296G>T , CM000672.2:g.16836296G>T | GRCh38 |
NC_000010.10:g.16878295G>T , CM000672.1:g.16878295G>T | GRCh37 |
NC_000010.9:g.16918301G>T | NCBI36 |
NG_008967.1:g.298522C>A , LRG_540:g.298522C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000377833.10:c.10119C>A MANE Select | ENSP00000367064.4:p.Val3373= | |
ENST00000377833.8:c.10119C>A | ENSP00000367064.4:p.Val3373= | |
NM_001081.3:c.10119C>A , LRG_540t1:c.10119C>A | NP_001072.2:p.Val3373= | |
XM_011519709.1:c.6105C>A | XP_011518011.1:p.Val2035= | |
XM_011519710.1:c.6081C>A | XP_011518012.1:p.Val2027= | |
XM_011519711.1:c.5961C>A | XP_011518013.1:p.Val1987= | |
XM_011519709.2:c.6105C>A | XP_011518011.1:p.Val2035= | |
XM_011519710.2:c.6081C>A | XP_011518012.1:p.Val2027= | |
XM_011519711.3:c.5961C>A | XP_011518013.1:p.Val1987= | |
NM_001081.4:c.10119C>A MANE Select | NP_001072.2:p.Val3373= |