HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94780655T>A , CM000672.2:g.94780655T>A | GRCh38 |
NC_000010.10:g.96540412T>A , CM000672.1:g.96540412T>A | GRCh37 |
NC_000010.9:g.96530402T>A | NCBI36 |
NG_008384.2:g.22950T>A | |
NG_008384.3:g.22975T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371321.9:c.638T>A MANE Select | ENSP00000360372.3:p.Ile213Asn | |
ENST00000645461.1:n.1691T>A | ||
ENST00000371321.7:c.638T>A | ENSP00000360372.3:p.Ile213Asn | |
ENST00000464755.1:c.1401T>A | ENSP00000483243.1:n.1401T>A | |
NM_000769.2:c.638T>A | NP_000760.1:p.Ile213Asn | |
NM_000769.4:c.638T>A MANE Select | NP_000760.1:p.Ile213Asn |