HGVS | Genome Assembly |
---|---|
NC_000001.11:g.168293151T>A , CM000663.2:g.168293151T>A | GRCh38 |
NC_000001.10:g.168262389T>A , CM000663.1:g.168262389T>A | GRCh37 |
NC_000001.9:g.166529013T>A | NCBI36 |
NG_008244.1:g.17112T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367821.8:c.476T>A MANE Select | ENSP00000356795.3:p.Leu159Ter | |
ENST00000367821.7:c.476T>A | ENSP00000356795.3:p.Leu159Ter | |
ENST00000431969.5:c.273T>A | ||
NM_005149.2:c.476T>A | NP_005140.1:p.Leu159Ter | |
NM_005149.3:c.476T>A MANE Select | NP_005140.1:p.Leu159Ter |