HGVS | Genome Assembly |
---|---|
NC_000001.11:g.2406784C>G , CM000663.2:g.2406784C>G | GRCh38 |
NC_000001.10:g.2338223C>G , CM000663.1:g.2338223C>G | GRCh37 |
NC_000001.9:g.2328083C>G | NCBI36 |
NG_008342.1:g.10788G>C | |
NG_016128.1:g.20010C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000288774.8:c.772G>C | ENSP00000288774.3:p.Gly258Arg | |
ENST00000447513.7:c.712G>C MANE Select | ENSP00000407922.2:p.Gly238Arg | |
ENST00000650293.1:c.666G>C | ||
ENST00000288774.7:c.772G>C | ENSP00000288774.3:p.Gly258Arg | |
ENST00000447513.6:c.712G>C | ENSP00000407922.2:p.Gly238Arg | |
ENST00000507596.5:c.712G>C | ENSP00000424291.1:p.Gly238Arg | |
ENST00000510434.1:c.*78G>C | ENSP00000423051.1:n.*78G>C | |
NM_002617.3:c.712G>C | NP_002608.1:p.Gly238Arg | |
NM_153818.1:c.772G>C | NP_722540.1:p.Gly258Arg | |
XM_011541573.1:c.769G>C | XP_011539875.1:p.Gly257Arg | |
XM_011541574.1:c.337G>C | XP_011539876.1:p.Gly113Arg | |
XM_011541575.1:c.337G>C | XP_011539877.1:p.Gly113Arg | |
XR_946666.1:n.828G>C | ||
XR_946666.2:n.777G>C | ||
NM_001374425.1:c.769G>C | NP_001361354.1:p.Gly257Arg | |
NM_001374426.1:c.337G>C | NP_001361355.1:p.Gly113Arg | |
NM_001374427.1:c.280G>C | NP_001361356.1:p.Gly94Arg | |
NM_002617.4:c.712G>C MANE Select | NP_002608.1:p.Gly238Arg | |
NM_153818.2:c.772G>C | NP_722540.1:p.Gly258Arg | |
NR_164636.1:n.827G>C |