HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48419746G= , CM000681.2:g.48419746G= | GRCh38 |
NC_000019.9:g.48923003G= , CM000681.1:g.48923003G= | GRCh37 |
NC_000019.8:g.53614815G= | NCBI36 |
NG_052829.1:g.29872G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263269.4:c.2023G= MANE Select | ENSP00000263269.2:p.Ala675= | |
ENST00000263269.3:c.2023G= | ENSP00000263269.2:p.Ala675= | |
NM_000836.2:c.2023G= | NP_000827.2:p.Ala675= | |
XM_011526872.1:c.2023G= | XP_011525174.1:p.Ala675= | |
NM_000836.4:c.2023G= MANE Select | NP_000827.2:p.Ala675= |