HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94949196T>A , CM000672.2:g.94949196T>A | GRCh38 |
NC_000010.10:g.96708953T>A , CM000672.1:g.96708953T>A | GRCh37 |
NC_000010.9:g.96698943T>A | NCBI36 |
NG_008385.1:g.15539T>A | |
NG_008385.2:g.16039T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.731T>A MANE Select | ENSP00000260682.6:p.Ile244Asn | |
ENST00000643112.1:c.731T>A | ENSP00000496202.1:p.Ile244Asn | |
ENST00000260682.6:c.731T>A | ENSP00000260682.6:p.Ile244Asn | |
ENST00000473496.1:n.502T>A | ||
NM_000771.3:c.731T>A | NP_000762.2:p.Ile244Asn | |
NM_000771.4:c.731T>A MANE Select | NP_000762.2:p.Ile244Asn |