HGVS | Genome Assembly |
---|---|
NC_000023.11:g.21845246G>T , CM000685.2:g.21845246G>T | GRCh38 |
NC_000023.10:g.21863364G>T , CM000685.1:g.21863364G>T | GRCh37 |
NC_000023.9:g.21773285G>T | NCBI36 |
NG_012797.1:g.10709G>T | |
NG_012797.2:g.10709G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379484.10:c.300G>T MANE Select | ENSP00000368798.5:p.Gln100His | |
ENST00000365779.2:c.300G>T | ENSP00000368796.1:p.Gln100His | |
ENST00000379484.9:c.300G>T | ENSP00000368798.5:p.Gln100His | |
ENST00000465888.1:n.399G>T | ||
NM_015884.3:c.300G>T | NP_056968.1:p.Gln100His | |
NM_015884.4:c.300G>T MANE Select | NP_056968.1:p.Gln100His |