HGVS | Genome Assembly |
---|---|
NC_000020.11:g.3668446G>C , CM000682.2:g.3668446G>C | GRCh38 |
NC_000020.10:g.3649093G>C , CM000682.1:g.3649093G>C | GRCh37 |
NC_000020.9:g.3597093G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000356518.7:c.*517C>G MANE Select | ENSP00000348912.3:n.*517C>G | |
ENST00000350009.6:c.*517C>G | ENSP00000322550.5:n.*517C>G | |
ENST00000356518.6:c.*517C>G | ENSP00000348912.2:n.*517C>G | |
ENST00000379861.8:c.*517C>G | ENSP00000369190.4:n.*517C>G | |
ENST00000466620.5:n.2520C>G | ||
ENST00000483362.1:n.1882C>G | ||
ENST00000619289.4:c.*517C>G | ENSP00000484600.1:n.*517C>G | |
NM_001282447.1:c.*517C>G | NP_001269376.1:n.*517C>G | |
NM_025220.3:c.*517C>G | NP_079496.1:n.*517C>G | |
NM_153202.2:c.*517C>G | NP_694882.1:n.*517C>G | |
XM_005260843.1:c.*517C>G | XP_005260900.1:n.*517C>G | |
XM_006723639.1:c.*517C>G | XP_006723702.1:n.*517C>G | |
XM_006723640.1:c.*517C>G | XP_006723703.1:n.*517C>G | |
XM_011529366.1:c.*517C>G | XP_011527668.1:n.*517C>G | |
XM_011529367.1:c.*517C>G | XP_011527669.1:n.*517C>G | |
XM_011529368.1:c.*517C>G | XP_011527670.1:n.*517C>G | |
XM_011529373.1:c.*517C>G | XP_011527675.1:n.*517C>G | |
XR_937153.1:n.2980C>G | ||
XR_937154.1:n.2980C>G | ||
XR_937155.1:n.2901C>G | ||
XR_937157.1:n.2903C>G | ||
NM_001282447.2:c.*517C>G | NP_001269376.1:n.*517C>G | |
NM_025220.4:c.*517C>G | NP_079496.1:n.*517C>G | |
NM_153202.3:c.*517C>G | NP_694882.1:n.*517C>G | |
XM_011529373.2:c.*517C>G | XP_011527675.1:n.*517C>G | |
XR_001754405.1:n.3067C>G | ||
XR_002958534.1:n.3176C>G | ||
NM_001282447.3:c.*517C>G | NP_001269376.1:n.*517C>G | |
NM_025220.5:c.*517C>G MANE Select | NP_079496.1:n.*517C>G | |
NM_153202.4:c.*517C>G | NP_694882.1:n.*517C>G |