HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48587247A>C , CM000681.2:g.48587247A>C | GRCh38 |
NC_000019.9:g.49090504A>C , CM000681.1:g.49090504A>C | GRCh37 |
NC_000019.8:g.53782316A>C | NCBI36 |
NG_029063.1:g.40076A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000201586.7:c.233A>C MANE Select | ENSP00000201586.2:p.Glu78Ala | |
ENST00000201586.6:c.233A>C | ENSP00000201586.1:p.Glu78Ala | |
ENST00000323090.4:c.188A>C | ENSP00000312880.3:p.Glu63Ala | |
NM_004605.2:c.188A>C | NP_004596.2:p.Glu63Ala | |
NM_177973.1:c.233A>C | NP_814444.1:p.Glu78Ala | |
NM_177973.2:c.233A>C MANE Select | NP_814444.1:p.Glu78Ala |