HGVS | Genome Assembly |
---|---|
NC_000010.11:g.17065398C>T , CM000672.2:g.17065398C>T | GRCh38 |
NC_000010.10:g.17107397C>T , CM000672.1:g.17107397C>T | GRCh37 |
NC_000010.9:g.17147403C>T | NCBI36 |
NG_008967.1:g.69420G>A , LRG_540:g.69420G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000377833.10:c.3139+110G>A MANE Select | ENSP00000367064.4:n.3139+110G>A | |
ENST00000377833.8:c.3139+110G>A | ENSP00000367064.4:n.3139+110G>A | |
NM_001081.3:c.3139+110G>A , LRG_540t1:c.3139+110G>A | NP_001072.2:n.3139+110G>A | |
XM_011519708.1:c.3139+110G>A | XP_011518010.1:n.3139+110G>A | |
XM_011519708.2:c.3139+110G>A | XP_011518010.1:n.3139+110G>A | |
NM_001081.4:c.3139+110G>A MANE Select | NP_001072.2:n.3139+110G>A |