HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271095C>G , CM000668.2:g.31271095C>G | GRCh38 |
NC_000006.11:g.31238872C>G , CM000668.1:g.31238872C>G | GRCh37 |
NC_000006.10:g.31346851C>G | NCBI36 |
NG_029422.2:g.6037G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.597G>C MANE Select | ENSP00000365402.5:p.Gly199= | |
ENST00000376228.9:c.597G>C | ENSP00000365402.5:p.Gly199= | |
ENST00000376237.8:c.*184G>C | ENSP00000365412.4:n.*184G>C | |
ENST00000383329.7:c.597G>C | ENSP00000372819.3:p.Gly199= | |
ENST00000415537.1:c.595G>C | ||
ENST00000487245.5:n.956G>C | ||
ENST00000495835.1:n.786G>C | ||
NM_002117.5:c.597G>C | NP_002108.4:p.Gly199= | |
NM_002117.6:c.597G>C MANE Select | NP_002108.4:p.Gly199= |