HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271319A>G , CM000668.2:g.31271319A>G | GRCh38 |
NC_000006.11:g.31239096A>G , CM000668.1:g.31239096A>G | GRCh37 |
NC_000006.10:g.31347075A>G | NCBI36 |
NG_029422.2:g.5813T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.373T>C MANE Select | ENSP00000365402.5:p.Cys125Arg | |
ENST00000376228.9:c.373T>C | ENSP00000365402.5:p.Cys125Arg | |
ENST00000376237.8:c.356T>C | ENSP00000365412.4:p.Leu119Pro | |
ENST00000383329.7:c.373T>C | ENSP00000372819.3:p.Cys125Arg | |
ENST00000415537.1:c.371T>C | ||
ENST00000484378.1:n.642T>C | ||
ENST00000487245.5:n.732T>C | ||
ENST00000495835.1:n.562T>C | ||
NM_002117.5:c.373T>C | NP_002108.4:p.Cys125Arg | |
NM_002117.6:c.373T>C MANE Select | NP_002108.4:p.Cys125Arg |