HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169555306T>A , CM000663.2:g.169555306T>A | GRCh38 |
NC_000001.10:g.169524544T>A , CM000663.1:g.169524544T>A | GRCh37 |
NC_000001.9:g.167791168T>A | NCBI36 |
NG_011806.1:g.36226A>T , LRG_553:g.36226A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367797.9:c.994A>T MANE Select | ENSP00000356771.3:p.Lys332Ter | |
ENST00000367796.3:c.994A>T | ENSP00000356770.3:p.Lys332Ter | |
ENST00000367797.7:c.994A>T | ENSP00000356771.3:p.Lys332Ter | |
NM_000130.4:c.994A>T , LRG_553t1:c.994A>T | NP_000121.2:p.Lys332Ter | |
XM_017000660.2:c.583A>T | XP_016856149.1:p.Lys195Ter | |
NM_000130.5:c.994A>T MANE Select | NP_000121.2:p.Lys332Ter |