HGVS | Genome Assembly |
---|---|
NC_000002.12:g.169487845C>A , CM000664.2:g.169487845C>A | GRCh38 |
NC_000002.11:g.170344355C>A , CM000664.1:g.170344355C>A | GRCh37 |
NC_000002.10:g.170052601C>A | NCBI36 |
NG_011567.1:g.13350C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295240.8:c.248C>A MANE Select | ENSP00000295240.3:p.Thr83Asn | |
ENST00000295240.7:c.248C>A | ENSP00000295240.3:p.Thr83Asn | |
ENST00000392663.6:c.248C>A | ENSP00000376431.2:p.Thr83Asn | |
ENST00000443151.1:c.143-142C>A | ENSP00000406182.1:n.143-142C>A | |
ENST00000475571.1:n.84C>A | ||
ENST00000513963.1:c.248C>A | ENSP00000424363.1:p.Thr83Asn | |
NM_152384.2:c.248C>A | NP_689597.1:p.Thr83Asn | |
NM_152384.3:c.248C>A MANE Select | NP_689597.1:p.Thr83Asn |