HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48124702A>G , CM000677.2:g.48124702A>G | GRCh38 |
NC_000015.9:g.48416899A>G , CM000677.1:g.48416899A>G | GRCh37 |
NC_000015.8:g.46204191A>G | NCBI36 |
NG_011500.1:g.8731A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000341459.8:c.301+2666A>G MANE Select | ENSP00000341550.3:n.301+2666A>G | |
ENST00000341459.7:c.301+2666A>G | ENSP00000341550.3:n.301+2666A>G | |
ENST00000449382.2:c.121+3537A>G | ENSP00000389966.2:n.121+3537A>G | |
ENST00000463289.1:n.61+2666A>G | ||
NM_205850.2:c.301+2666A>G | NP_995322.1:n.301+2666A>G | |
XM_011521458.1:c.301+2666A>G | XP_011519760.1:n.301+2666A>G | |
NM_205850.3:c.301+2666A>G MANE Select | NP_995322.1:n.301+2666A>G |