HGVS | Genome Assembly |
---|---|
NC_000016.10:g.56983347C>A , CM000678.2:g.56983347C>A | GRCh38 |
NC_000016.9:g.57017259C>A , CM000678.1:g.57017259C>A | GRCh37 |
NC_000016.8:g.55574760C>A | NCBI36 |
NG_008952.1:g.26425C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000200676.8:c.1343C>A MANE Select | ENSP00000200676.3:p.Ala448Asp | |
ENST00000650358.1:n.1741C>A | ||
ENST00000200676.7:c.1343C>A | ENSP00000200676.3:p.Ala448Asp | |
ENST00000379780.6:c.1163C>A | ENSP00000369106.2:p.Ala388Asp | |
ENST00000566128.1:c.1148C>A | ENSP00000456276.1:p.Ala383Asp | |
NM_000078.2:c.1343C>A | NP_000069.2:p.Ala448Asp | |
NM_001286085.1:c.1163C>A | NP_001273014.1:p.Ala388Asp | |
NM_000078.3:c.1343C>A MANE Select | NP_000069.2:p.Ala448Asp | |
NM_001286085.2:c.1163C>A | NP_001273014.1:p.Ala388Asp |