HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7525124G>T , CM000681.2:g.7525124G>T | GRCh38 |
NC_000019.9:g.7590010G>T , CM000681.1:g.7590010G>T | GRCh37 |
NC_000019.8:g.7496010G>T | NCBI36 |
NG_015806.1:g.7515G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.195G>T MANE Select | ENSP00000264079.5:p.Lys65Asn | |
ENST00000264079.10:c.195G>T | ENSP00000264079.5:p.Lys65Asn | |
ENST00000394321.9:n.275G>T | ||
ENST00000596390.1:n.311G>T | ||
ENST00000601003.1:c.195G>T | ENSP00000469074.1:p.Lys65Asn | |
NM_020533.2:c.195G>T | NP_065394.1:p.Lys65Asn | |
NM_020533.3:c.195G>T MANE Select | NP_065394.1:p.Lys65Asn |