HGVS | Genome Assembly |
---|---|
NC_000017.11:g.47284672G>C , CM000679.2:g.47284672G>C | GRCh38 |
NC_000017.10:g.45362038G>C , CM000679.1:g.45362038G>C | GRCh37 |
NC_000017.9:g.42717037G>C | NCBI36 |
NG_008332.2:g.35831G>C , LRG_481:g.35831G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696963.1:c.591G>C | ENSP00000513002.1:p.Glu197Asp | |
ENST00000559488.7:c.591G>C MANE Select | ENSP00000452786.2:p.Glu197Asp | |
ENST00000559488.5:c.591G>C | ENSP00000452786.1:p.Glu197Asp | |
ENST00000560629.1:c.556G>C | ||
ENST00000571680.1:c.591G>C | ENSP00000461626.1:p.Glu197Asp | |
NM_000212.2:c.591G>C , LRG_481t1:c.591G>C | NP_000203.2:p.Glu197Asp | |
NM_000212.3:c.591G>C MANE Select | NP_000203.2:p.Glu197Asp |