HGVS | Genome Assembly |
---|---|
NC_000020.11:g.10658508T>A , CM000682.2:g.10658508T>A | GRCh38 |
NC_000020.10:g.10639156T>A , CM000682.1:g.10639156T>A | GRCh37 |
NC_000020.9:g.10587156T>A | NCBI36 |
NG_007496.1:g.20539A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254958.10:c.654A>T MANE Select | ENSP00000254958.4:p.Lys218Asn | |
ENST00000254958.9:c.654A>T | ENSP00000254958.4:p.Lys218Asn | |
ENST00000423891.6:n.520A>T | ||
NM_000214.2:c.654A>T | NP_000205.1:p.Lys218Asn | |
NM_000214.3:c.654A>T MANE Select | NP_000205.1:p.Lys218Asn |