HGVS | Genome Assembly |
---|---|
NC_000004.12:g.68670479A>G , CM000666.2:g.68670479A>G | GRCh38 |
NC_000004.11:g.69536197A>G , CM000666.1:g.69536197A>G | GRCh37 |
NC_000004.10:g.69218792A>G | NCBI36 |
NG_052676.1:g.5298T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000338206.6:c.140T>C MANE Select | ENSP00000341045.5:p.Val47Ala | |
ENST00000338206.5:c.140T>C | ENSP00000341045.5:p.Val47Ala | |
ENST00000616841.4:c.140T>C | ENSP00000482004.1:p.Val47Ala | |
NM_001076.3:c.140T>C | NP_001067.2:p.Val47Ala | |
NM_001076.4:c.140T>C MANE Select | NP_001067.2:p.Val47Ala |