HGVS | Genome Assembly |
---|---|
NC_000020.11:g.3671095C>G , CM000682.2:g.3671095C>G | GRCh38 |
NC_000020.10:g.3651742C>G , CM000682.1:g.3651742C>G | GRCh37 |
NC_000020.9:g.3599742C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000356518.7:c.2151G>C MANE Select | ENSP00000348912.3:p.Gly717= | |
ENST00000350009.6:c.2073G>C | ENSP00000322550.5:p.Gly691= | |
ENST00000356518.6:c.2151G>C | ENSP00000348912.2:p.Gly717= | |
ENST00000379861.8:c.2151G>C | ENSP00000369190.4:p.Gly717= | |
ENST00000466620.5:n.1712G>C | ||
ENST00000617732.1:c.*838G>C | ENSP00000483343.1:n.*838G>C | |
ENST00000619289.4:c.1791G>C | ENSP00000484600.1:p.Gly597= | |
NM_001282447.1:c.2151G>C | NP_001269376.1:p.Gly717= | |
NM_025220.3:c.2151G>C | NP_079496.1:p.Gly717= | |
NM_153202.2:c.2073G>C | NP_694882.1:p.Gly691= | |
XM_005260843.1:c.2190G>C | XP_005260900.1:p.Gly730= | |
XM_006723639.1:c.2190G>C | XP_006723702.1:p.Gly730= | |
XM_006723640.1:c.2181G>C | XP_006723703.1:p.Gly727= | |
XM_011529366.1:c.2187G>C | XP_011527668.1:p.Gly729= | |
XM_011529367.1:c.2148G>C | XP_011527669.1:p.Gly716= | |
XM_011529368.1:c.2112G>C | XP_011527670.1:p.Gly704= | |
XM_011529373.1:c.1188G>C | XP_011527675.1:p.Gly396= | |
XR_937151.1:n.2294G>C | ||
XR_937152.1:n.2294G>C | ||
XR_937153.1:n.2175G>C | ||
XR_937154.1:n.2175G>C | ||
XR_937155.1:n.2096G>C | ||
XR_937157.1:n.2098G>C | ||
NM_001282447.2:c.2151G>C | NP_001269376.1:p.Gly717= | |
NM_025220.4:c.2151G>C | NP_079496.1:p.Gly717= | |
NM_153202.3:c.2073G>C | NP_694882.1:p.Gly691= | |
XM_011529373.2:c.1188G>C | XP_011527675.1:p.Gly396= | |
XR_001754405.1:n.2262G>C | ||
XR_002958534.1:n.2371G>C | ||
NM_001282447.3:c.2151G>C | NP_001269376.1:p.Gly717= | |
NM_025220.5:c.2151G>C MANE Select | NP_079496.1:p.Gly717= | |
NM_153202.4:c.2073G>C | NP_694882.1:p.Gly691= |