HGVS | Genome Assembly |
---|---|
NC_000015.10:g.61154154T>G , CM000677.2:g.61154154T>G | GRCh38 |
NC_000015.9:g.61446353T>G , CM000677.1:g.61446353T>G | GRCh37 |
NC_000015.8:g.59233645T>G | NCBI36 |
NG_029246.1:g.80150A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000335670.11:c.166+74899A>C MANE Select | ENSP00000335087.6:n.166+74899A>C | |
ENST00000335670.10:c.166+74899A>C | ENSP00000335087.6:n.166+74899A>C | |
ENST00000551975.5:c.81+74899A>C | ||
ENST00000557822.5:n.191+74899A>C | ||
ENST00000559145.1:n.173+74899A>C | ||
ENST00000560300.1:n.181+74899A>C | ||
ENST00000561093.1:n.179+74899A>C | ||
NM_134261.2:c.166+74899A>C | NP_599023.1:n.166+74899A>C | |
XM_011521878.1:c.-328+74899A>C | XP_011520180.1:n.-328+74899A>C | |
XM_011521878.2:c.-328+74899A>C | XP_011520180.1:n.-328+74899A>C | |
NM_134261.3:c.166+74899A>C MANE Select | NP_599023.1:n.166+74899A>C |