HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41586392C>A , CM000679.2:g.41586392C>A | GRCh38 |
NC_000017.10:g.39742644C>A , CM000679.1:g.39742644C>A | GRCh37 |
NC_000017.9:g.36996170C>A | NCBI36 |
NG_008624.1:g.5504G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000167586.7:c.443G>T MANE Select | ENSP00000167586.6:p.Arg148Leu | |
ENST00000167586.6:c.443G>T | ENSP00000167586.6:p.Arg148Leu | |
NM_000526.4:c.443G>T | NP_000517.2:p.Arg148Leu | |
NM_000526.5:c.443G>T MANE Select | NP_000517.3:p.Arg148Leu |