HGVS | Genome Assembly |
---|---|
NC_000020.11:g.57564352C>A , CM000682.2:g.57564352C>A | GRCh38 |
NC_000020.10:g.56139408C>A , CM000682.1:g.56139408C>A | GRCh37 |
NC_000020.9:g.55572814C>A | NCBI36 |
NG_008205.1:g.8272C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000319441.6:c.1145C>A MANE Select | ENSP00000319814.4:p.Thr382Asn | |
ENST00000319441.5:c.1145C>A | ENSP00000319814.4:p.Thr382Asn | |
ENST00000467047.1:n.3273C>A | ||
ENST00000485958.1:n.269C>A | ||
NM_002591.3:c.1145C>A | NP_002582.3:p.Thr382Asn | |
XM_011528839.1:c.749C>A | XP_011527141.1:p.Thr250Asn | |
XM_024451888.1:c.749C>A | XP_024307656.1:p.Thr250Asn | |
NM_002591.4:c.1145C>A MANE Select | NP_002582.3:p.Thr382Asn |