HGVS | Genome Assembly |
---|---|
NC_000004.12:g.68670475C>G , CM000666.2:g.68670475C>G | GRCh38 |
NC_000004.11:g.69536193C>G , CM000666.1:g.69536193C>G | GRCh37 |
NC_000004.10:g.69218788C>G | NCBI36 |
NG_052676.1:g.5302G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000338206.6:c.144G>C MANE Select | ENSP00000341045.5:p.Gln48His | |
ENST00000338206.5:c.144G>C | ENSP00000341045.5:p.Gln48His | |
ENST00000616841.4:c.144G>C | ENSP00000482004.1:p.Gln48His | |
NM_001076.3:c.144G>C | NP_001067.2:p.Gln48His | |
NM_001076.4:c.144G>C MANE Select | NP_001067.2:p.Gln48His |