HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94942690G>T , CM000672.2:g.94942690G>T | GRCh38 |
NC_000010.10:g.96702447G>T , CM000672.1:g.96702447G>T | GRCh37 |
NC_000010.9:g.96692437G>T | NCBI36 |
NG_008385.1:g.9033G>T | |
NG_008385.2:g.9533G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.481+349G>T MANE Select | ENSP00000260682.6:n.481+349G>T | |
ENST00000643112.1:c.481+349G>T | ENSP00000496202.1:n.481+349G>T | |
ENST00000645207.1:n.634+349G>T | ||
ENST00000260682.6:c.481+349G>T | ENSP00000260682.6:n.481+349G>T | |
ENST00000461906.1:n.855G>T | ||
ENST00000473496.1:n.252+349G>T | ||
NM_000771.3:c.481+349G>T | NP_000762.2:n.481+349G>T | |
NM_000771.4:c.481+349G>T MANE Select | NP_000762.2:n.481+349G>T |