HGVS | Genome Assembly |
---|---|
NC_000010.11:g.30313930A>T , CM000672.2:g.30313930A>T | GRCh38 |
NC_000010.10:g.30602859A>T , CM000672.1:g.30602859A>T | GRCh37 |
NC_000010.9:g.30642865A>T | NCBI36 |
NG_028096.1:g.40409T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263063.9:c.1428T>A MANE Select | ENSP00000263063.3:p.Ile476= | |
ENST00000263063.8:c.1428T>A | ENSP00000263063.3:p.Ile476= | |
ENST00000488290.5:n.3183T>A | ||
NM_018109.3:c.1428T>A | NP_060579.3:p.Ile476= | |
NM_018109.4:c.1428T>A MANE Select | NP_060579.3:p.Ile476= |