HGVS | Genome Assembly |
---|---|
NC_000023.11:g.37728024G>T , CM000685.2:g.37728024G>T | GRCh38 |
NC_000023.10:g.37587277G>T , CM000685.1:g.37587277G>T | GRCh37 |
NC_000023.9:g.37472216G>T | NCBI36 |
NG_007473.1:g.47165G>T | |
NG_007473.3:g.47145G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378616.5:c.897G>T MANE Select | ENSP00000367879.3:p.Gln299His | |
ENST00000378616.3:c.897G>T | ENSP00000367879.3:p.Gln299His | |
ENST00000465127.1:c.171+302024G>T | ENSP00000417050.1:n.171+302024G>T | |
NM_021083.2:c.897G>T | NP_066569.1:p.Gln299His | |
NM_021083.4:c.897G>T MANE Select | NP_066569.1:p.Gln299His |