HGVS | Genome Assembly |
---|---|
NC_000011.10:g.66211210C>A , CM000673.2:g.66211210C>A | GRCh38 |
NC_000011.9:g.65978681C>A , CM000673.1:g.65978681C>A | GRCh37 |
NC_000011.8:g.65735257C>A | NCBI36 |
NG_033900.1:g.145858C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320580.9:c.611C>A MANE Select | ENSP00000316454.4:p.Thr204Asn | |
ENST00000320580.8:c.611C>A | ENSP00000316454.4:p.Thr204Asn | |
ENST00000527224.1:n.735C>A | ||
ENST00000527380.1:c.317C>A | ENSP00000432639.1:p.Thr106Asn | |
ENST00000533756.5:c.302C>A | ENSP00000437150.1:p.Thr101Asn | |
NM_018026.3:c.611C>A | NP_060496.2:p.Thr204Asn | |
XM_011545162.1:c.290C>A | XP_011543464.1:p.Thr97Asn | |
XM_011545163.1:c.281C>A | XP_011543465.1:p.Thr94Asn | |
XM_011545164.1:c.272C>A | XP_011543466.1:p.Thr91Asn | |
XM_011545164.2:c.272C>A | XP_011543466.1:p.Thr91Asn | |
XR_001747924.1:n.822C>A | ||
NM_018026.4:c.611C>A MANE Select | NP_060496.2:p.Thr204Asn |