HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94850021T>A , CM000672.2:g.94850021T>A | GRCh38 |
NC_000010.10:g.96609778T>A , CM000672.1:g.96609778T>A | GRCh37 |
NC_000010.9:g.96599768T>A | NCBI36 |
NG_008384.2:g.92316T>A | |
NG_008384.3:g.92341T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.1254T>A MANE Select | ENSP00000360372.3:p.Asn418Lys | |
ENST00000645461.1:n.2165T>A | ||
ENST00000371321.7:c.1254T>A | ENSP00000360372.3:p.Asn418Lys | |
ENST00000464755.1:c.2017T>A | ENSP00000483243.1:n.2017T>A | |
NM_000769.2:c.1254T>A | NP_000760.1:p.Asn418Lys | |
NM_000769.4:c.1254T>A MANE Select | NP_000760.1:p.Asn418Lys |