HGVS | Genome Assembly |
---|---|
NC_000017.11:g.6780502A>C , CM000679.2:g.6780502A>C | GRCh38 |
NC_000017.10:g.6683821A>C , CM000679.1:g.6683821A>C | GRCh37 |
NC_000017.9:g.6624545A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000321535.5:c.634A>C MANE Select | ENSP00000321386.4:p.Asn212His | |
ENST00000321535.4:c.634A>C | ENSP00000321386.4:p.Asn212His | |
NM_153230.2:c.634A>C | NP_694962.1:p.Asn212His | |
XM_011523697.1:c.634A>C | XP_011521999.1:p.Asn212His | |
XR_243544.3:n.812A>C | ||
NM_153230.3:c.634A>C MANE Select | NP_694962.1:p.Asn212His |