HGVS | Genome Assembly |
---|---|
NC_000010.11:g.30313837C>T , CM000672.2:g.30313837C>T | GRCh38 |
NC_000010.10:g.30602766C>T , CM000672.1:g.30602766C>T | GRCh37 |
NC_000010.9:g.30642772C>T | NCBI36 |
NG_028096.1:g.40502G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263063.9:c.1521G>A MANE Select | ENSP00000263063.3:p.Trp507Ter | |
ENST00000263063.8:c.1521G>A | ENSP00000263063.3:p.Trp507Ter | |
ENST00000488290.5:n.3276G>A | ||
NM_018109.3:c.1521G>A | NP_060579.3:p.Trp507Ter | |
NM_018109.4:c.1521G>A MANE Select | NP_060579.3:p.Trp507Ter |