HGVS | Genome Assembly |
---|---|
NC_000010.11:g.16841056A>C , CM000672.2:g.16841056A>C | GRCh38 |
NC_000010.10:g.16883055A>C , CM000672.1:g.16883055A>C | GRCh37 |
NC_000010.9:g.16923061A>C | NCBI36 |
NG_008967.1:g.293762T>G , LRG_540:g.293762T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000377833.10:c.9664-9T>G MANE Select | ENSP00000367064.4:n.9664-9T>G | |
ENST00000649135.1:n.259-9T>G | ||
ENST00000377833.8:c.9664-9T>G | ENSP00000367064.4:n.9664-9T>G | |
NM_001081.3:c.9664-9T>G , LRG_540t1:c.9664-9T>G | NP_001072.2:n.9664-9T>G | |
XM_011519709.1:c.5650-9T>G | XP_011518011.1:n.5650-9T>G | |
XM_011519710.1:c.5626-9T>G | XP_011518012.1:n.5626-9T>G | |
XM_011519711.1:c.5506-9T>G | XP_011518013.1:n.5506-9T>G | |
XM_011519709.2:c.5650-9T>G | XP_011518011.1:n.5650-9T>G | |
XM_011519710.2:c.5626-9T>G | XP_011518012.1:n.5626-9T>G | |
XM_011519711.3:c.5506-9T>G | XP_011518013.1:n.5506-9T>G | |
NM_001081.4:c.9664-9T>G MANE Select | NP_001072.2:n.9664-9T>G |