HGVS | Genome Assembly |
---|---|
NC_000002.12:g.223053309A>C , CM000664.2:g.223053309A>C | GRCh38 |
NC_000002.11:g.223918027A>C , CM000664.1:g.223918027A>C | GRCh37 |
NC_000002.10:g.223626271A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000281830.4:c.479A>C MANE Select | ENSP00000281830.5:p.Glu160Ala | |
ENST00000281830.3:c.632A>C | ENSP00000281830.4:p.Glu211Ala | |
ENST00000488477.2:n.75+1035A>C | ||
NM_080671.3:c.632A>C | NP_542402.3:p.Glu211Ala | |
NM_080671.4:c.479A>C MANE Select | NP_542402.4:p.Glu160Ala |