HGVS | Genome Assembly |
---|---|
NC_000012.12:g.110914275T>A , CM000674.2:g.110914275T>A | GRCh38 |
NC_000012.11:g.111352079T>A , CM000674.1:g.111352079T>A | GRCh37 |
NC_000012.10:g.109836462T>A | NCBI36 |
NG_007554.1:g.11303A>T , LRG_393:g.11303A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000228841.15:c.185A>T MANE Select | ENSP00000228841.8:p.Lys62Ile | |
ENST00000663220.1:c.128A>T | ENSP00000499568.1:p.Lys43Ile | |
ENST00000228841.12:c.185A>T | ENSP00000228841.7:p.Lys62Ile | |
ENST00000548438.1:c.143A>T | ENSP00000447154.1:p.Lys48Ile | |
ENST00000549029.1:n.16A>T | ||
NM_000432.3:c.185A>T , LRG_393t1:c.185A>T | NP_000423.2:p.Lys62Ile | |
NM_000432.4:c.185A>T MANE Select | NP_000423.2:p.Lys62Ile |