HGVS | Genome Assembly |
---|---|
NC_000010.11:g.30313729C>A , CM000672.2:g.30313729C>A | GRCh38 |
NC_000010.10:g.30602658C>A , CM000672.1:g.30602658C>A | GRCh37 |
NC_000010.9:g.30642664C>A | NCBI36 |
NG_028096.1:g.40610G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263063.9:c.1629G>T MANE Select | ENSP00000263063.3:p.Lys543Asn | |
ENST00000263063.8:c.1629G>T | ENSP00000263063.3:p.Lys543Asn | |
ENST00000488290.5:n.3384G>T | ||
NM_018109.3:c.1629G>T | NP_060579.3:p.Lys543Asn | |
NM_018109.4:c.1629G>T MANE Select | NP_060579.3:p.Lys543Asn |