HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41584333A>T , CM000679.2:g.41584333A>T | GRCh38 |
NC_000017.10:g.39740585A>T , CM000679.1:g.39740585A>T | GRCh37 |
NC_000017.9:g.36994111A>T | NCBI36 |
NG_008624.1:g.7563T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000167586.7:c.689T>A MANE Select | ENSP00000167586.6:p.Leu230Gln | |
ENST00000167586.6:c.689T>A | ENSP00000167586.6:p.Leu230Gln | |
ENST00000476662.1:n.139T>A | ||
NM_000526.4:c.689T>A | NP_000517.2:p.Leu230Gln | |
NM_000526.5:c.689T>A MANE Select | NP_000517.3:p.Leu230Gln |