HGVS | Genome Assembly |
---|---|
NC_000019.10:g.35848775A>T , CM000681.2:g.35848775A>T | GRCh38 |
NC_000019.9:g.36339677A>T , CM000681.1:g.36339677A>T | GRCh37 |
NC_000019.8:g.41031517A>T | NCBI36 |
NG_013356.2:g.25513T>A , LRG_693:g.25513T>A | |
NG_051206.1:g.2141A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378910.10:c.1032T>A MANE Select | ENSP00000368190.4:p.Ile344= | |
ENST00000353632.6:c.1032T>A | ENSP00000343634.5:p.Ile344= | |
ENST00000378910.9:c.1032T>A | ENSP00000368190.4:p.Ile344= | |
ENST00000592132.1:n.39T>A | ||
NM_004646.3:c.1032T>A , LRG_693t1:c.1032T>A | NP_004637.1:p.Ile344= | |
NM_004646.4:c.1032T>A MANE Select | NP_004637.1:p.Ile344= |