HGVS | Genome Assembly |
---|---|
NC_000020.11:g.3668784A>G , CM000682.2:g.3668784A>G | GRCh38 |
NC_000020.10:g.3649431A>G , CM000682.1:g.3649431A>G | GRCh37 |
NC_000020.9:g.3597431A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000356518.7:c.*179T>C MANE Select | ENSP00000348912.3:n.*179T>C | |
ENST00000350009.6:c.*179T>C | ENSP00000322550.5:n.*179T>C | |
ENST00000356518.6:c.*179T>C | ENSP00000348912.2:n.*179T>C | |
ENST00000379861.8:c.*179T>C | ENSP00000369190.4:n.*179T>C | |
ENST00000466620.5:n.2182T>C | ||
ENST00000483362.1:n.1544T>C | ||
ENST00000617732.1:c.*1305T>C | ENSP00000483343.1:n.*1305T>C | |
ENST00000619289.4:c.*179T>C | ENSP00000484600.1:n.*179T>C | |
NM_001282447.1:c.*179T>C | NP_001269376.1:n.*179T>C | |
NM_025220.3:c.*179T>C | NP_079496.1:n.*179T>C | |
NM_153202.2:c.*179T>C | NP_694882.1:n.*179T>C | |
XM_005260843.1:c.*179T>C | XP_005260900.1:n.*179T>C | |
XM_006723639.1:c.*179T>C | XP_006723702.1:n.*179T>C | |
XM_006723640.1:c.*179T>C | XP_006723703.1:n.*179T>C | |
XM_011529366.1:c.*179T>C | XP_011527668.1:n.*179T>C | |
XM_011529367.1:c.*179T>C | XP_011527669.1:n.*179T>C | |
XM_011529368.1:c.*179T>C | XP_011527670.1:n.*179T>C | |
XM_011529373.1:c.*179T>C | XP_011527675.1:n.*179T>C | |
XR_937153.1:n.2642T>C | ||
XR_937154.1:n.2642T>C | ||
XR_937155.1:n.2563T>C | ||
XR_937157.1:n.2565T>C | ||
NM_001282447.2:c.*179T>C | NP_001269376.1:n.*179T>C | |
NM_025220.4:c.*179T>C | NP_079496.1:n.*179T>C | |
NM_153202.3:c.*179T>C | NP_694882.1:n.*179T>C | |
XM_011529373.2:c.*179T>C | XP_011527675.1:n.*179T>C | |
XR_001754405.1:n.2729T>C | ||
XR_002958534.1:n.2838T>C | ||
NM_001282447.3:c.*179T>C | NP_001269376.1:n.*179T>C | |
NM_025220.5:c.*179T>C MANE Select | NP_079496.1:n.*179T>C | |
NM_153202.4:c.*179T>C | NP_694882.1:n.*179T>C |