HGVS | Genome Assembly |
---|---|
NC_000011.10:g.121307379A>C , CM000673.2:g.121307379A>C | GRCh38 |
NC_000011.9:g.121178088A>C , CM000673.1:g.121178088A>C | GRCh37 |
NC_000011.8:g.120683298A>C | NCBI36 |
NG_009446.1:g.19701A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264027.9:c.767A>C MANE Select | ENSP00000264027.4:p.Asn256Thr | |
ENST00000264027.8:c.767A>C | ENSP00000264027.4:p.Asn256Thr | |
ENST00000392789.2:c.767A>C | ENSP00000376539.2:p.Asn256Thr | |
ENST00000527183.1:n.1060A>C | ||
ENST00000534230.5:c.632-78A>C | ENSP00000432550.1:n.632-78A>C | |
NM_001024956.2:c.767A>C | NP_001020127.1:p.Asn256Thr | |
NM_006918.4:c.767A>C | NP_008849.2:p.Asn256Thr | |
NM_006918.5:c.767A>C MANE Select | NP_008849.2:p.Asn256Thr | |
NM_001024956.3:c.767A>C | NP_001020127.1:p.Asn256Thr |