HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269500C>G , CM000668.2:g.31269500C>G | GRCh38 |
NC_000006.11:g.31237277C>G , CM000668.1:g.31237277C>G | GRCh37 |
NC_000006.10:g.31345256C>G | NCBI36 |
NG_029422.2:g.7632G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.1041G>C MANE Select | ENSP00000365402.5:p.Gln347His | |
ENST00000376228.9:c.1041G>C | ENSP00000365402.5:p.Gln347His | |
ENST00000376237.8:c.*628G>C | ENSP00000365412.4:n.*628G>C | |
ENST00000383329.7:c.1059G>C | ENSP00000372819.3:p.Gln353His | |
ENST00000466892.5:n.167G>C | ||
ENST00000470363.5:n.799G>C | ||
ENST00000487245.5:n.1400G>C | ||
NM_002117.5:c.1041G>C | NP_002108.4:p.Gln347His | |
NM_002117.6:c.1041G>C MANE Select | NP_002108.4:p.Gln347His |