HGVS | Genome Assembly |
---|---|
NC_000023.11:g.25004671T>A , CM000685.2:g.25004671T>A | GRCh38 |
NC_000023.10:g.25022788T>A , CM000685.1:g.25022788T>A | GRCh37 |
NC_000023.9:g.24932709T>A | NCBI36 |
NG_008281.1:g.16278A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000379044.5:c.1688A>T MANE Select | ENSP00000368332.4:p.Ter563Leu | |
ENST00000379044.4:c.1688A>T | ENSP00000368332.4:p.Ter563Leu | |
NM_139058.2:c.1688A>T | NP_620689.1:p.Ter563Leu | |
NM_139058.3:c.1688A>T MANE Select | NP_620689.1:p.Ter563Leu |