HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19951775G>C , CM000670.2:g.19951775G>C | GRCh38 |
NC_000008.10:g.19809286G>C , CM000670.1:g.19809286G>C | GRCh37 |
NC_000008.9:g.19853566G>C | NCBI36 |
NG_008855.1:g.17705G>C | |
NG_008855.2:g.55059G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.256G>C MANE Select | ENSP00000497642.1:p.Gly86Arg | |
ENST00000311322.8:c.256G>C | ENSP00000309757.6:p.Gly86Arg | |
ENST00000520959.5:c.28G>C | ENSP00000428496.1:p.Gly10Arg | |
ENST00000521994.1:n.513G>C | ||
ENST00000522701.5:c.256G>C | ENSP00000428557.1:p.Gly86Arg | |
ENST00000524029.5:c.256G>C | ENSP00000428237.1:p.Gly86Arg | |
NM_000237.2:c.256G>C | NP_000228.1:p.Gly86Arg | |
NM_000237.3:c.256G>C MANE Select | NP_000228.1:p.Gly86Arg |