HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52516786G>T , CM000674.2:g.52516786G>T | GRCh38 |
NC_000012.11:g.52910570G>T , CM000674.1:g.52910570G>T | GRCh37 |
NC_000012.10:g.51196837G>T | NCBI36 |
NG_008297.1:g.8674C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.1290C>A MANE Select | ENSP00000252242.4:p.Asn430Lys | |
ENST00000252242.8:c.1290C>A | ENSP00000252242.4:p.Asn430Lys | |
ENST00000547890.5:n.668C>A | ||
ENST00000548409.5:c.412C>A | ||
ENST00000549511.5:n.497C>A | ||
ENST00000552629.5:n.1388C>A | ||
NM_000424.3:c.1290C>A | NP_000415.2:p.Asn430Lys | |
NM_000424.4:c.1290C>A MANE Select | NP_000415.2:p.Asn430Lys |