HGVS | Genome Assembly |
---|---|
NC_000019.10:g.35831127T>A , CM000681.2:g.35831127T>A | GRCh38 |
NC_000019.9:g.36322029T>A , CM000681.1:g.36322029T>A | GRCh37 |
NC_000019.8:g.41013869T>A | NCBI36 |
NG_013356.2:g.43161A>T , LRG_693:g.43161A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378910.10:c.3407A>T MANE Select | ENSP00000368190.4:p.Glu1136Val | |
ENST00000353632.6:c.3287A>T | ENSP00000343634.5:p.Glu1096Val | |
ENST00000378910.9:c.3407A>T | ENSP00000368190.4:p.Glu1136Val | |
NM_004646.3:c.3407A>T , LRG_693t1:c.3407A>T | NP_004637.1:p.Glu1136Val | |
NM_004646.4:c.3407A>T MANE Select | NP_004637.1:p.Glu1136Val |