HGVS | Genome Assembly |
---|---|
NC_000010.11:g.133538909T>A , CM000672.2:g.133538909T>A | GRCh38 |
NC_000010.10:g.135352413T>A , CM000672.1:g.135352413T>A | GRCh37 |
NC_000010.9:g.135202403T>A | NCBI36 |
NG_008383.1:g.16547T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252945.8:c.1427T>A MANE Select | ENSP00000252945.3:p.Ile476Asn | |
ENST00000252945.7:c.1427T>A | ENSP00000252945.3:p.Ile476Asn | |
ENST00000368520.1:n.1358+1017T>A | ||
ENST00000463117.6:c.1427T>A | ENSP00000440689.1:p.Ile476Asn | |
ENST00000469258.1:n.523T>A | ||
NM_000773.3:c.1427T>A | NP_000764.1:p.Ile476Asn | |
NM_000773.4:c.1427T>A MANE Select | NP_000764.1:p.Ile476Asn |