HGVS | Genome Assembly |
---|---|
NC_000004.12:g.99318067C>G , CM000666.2:g.99318067C>G | GRCh38 |
NC_000004.11:g.100239224C>G , CM000666.1:g.100239224C>G | GRCh37 |
NC_000004.10:g.100458247C>G | NCBI36 |
NG_011435.1:g.8349G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305046.13:c.238G>C MANE Select | ENSP00000306606.8:p.Gly80Arg | |
ENST00000639454.1:c.238G>C | ENSP00000491622.1:p.Gly80Arg | |
ENST00000305046.12:c.238G>C | ENSP00000306606.8:p.Gly80Arg | |
ENST00000504498.1:n.292G>C | ||
ENST00000506651.5:c.118G>C | ENSP00000425998.2:p.Gly40Arg | |
ENST00000515694.4:n.2333G>C | ||
ENST00000625860.2:c.118G>C | ENSP00000486614.1:p.Gly40Arg | |
ENST00000632775.1:n.801G>C | ||
NM_000668.5:c.238G>C | NP_000659.2:p.Gly80Arg | |
NM_001286650.1:c.118G>C | NP_001273579.1:p.Gly40Arg | |
NM_000668.6:c.238G>C MANE Select | NP_000659.2:p.Gly80Arg | |
NM_001286650.2:c.118G>C | NP_001273579.1:p.Gly40Arg |