HGVS | Genome Assembly |
---|---|
NC_000005.10:g.55233183C>T , CM000667.2:g.55233183C>T | GRCh38 |
NC_000005.9:g.54529011C>T , CM000667.1:g.54529011C>T | GRCh37 |
NC_000005.8:g.54564768C>T | NCBI36 |
NG_034201.1:g.5535G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282572.5:c.341G>A MANE Select | ENSP00000282572.4:p.Ser114Asn | |
ENST00000282572.4:c.341G>A | ENSP00000282572.4:p.Ser114Asn | |
ENST00000501463.2:c.341G>A | ENSP00000422485.1:p.Ser114Asn | |
NM_021147.4:c.341G>A | NP_066970.3:p.Ser114Asn | |
NR_125346.1:n.535G>A | ||
NR_125347.1:n.535G>A | ||
NM_021147.5:c.341G>A MANE Select | NP_066970.3:p.Ser114Asn | |
NR_125346.2:n.426G>A | ||
NR_125347.2:n.426G>A |