HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41586322G>A , CM000679.2:g.41586322G>A | GRCh38 |
NC_000017.10:g.39742574G>A , CM000679.1:g.39742574G>A | GRCh37 |
NC_000017.9:g.36996100G>A | NCBI36 |
NG_008624.1:g.5574C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000167586.7:c.513C>T MANE Select | ENSP00000167586.6:p.Asp171= | |
ENST00000167586.6:c.513C>T | ENSP00000167586.6:p.Asp171= | |
NM_000526.4:c.513C>T | NP_000517.2:p.Asp171= | |
NM_000526.5:c.513C>T MANE Select | NP_000517.3:p.Asp171= |