HGVS | Genome Assembly |
---|---|
NC_000011.10:g.89227898A>C , CM000673.2:g.89227898A>C | GRCh38 |
NC_000011.9:g.88961066A>C , CM000673.1:g.88961066A>C | GRCh37 |
NC_000011.8:g.88600714A>C | NCBI36 |
NG_008748.1:g.55027A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263321.6:c.1112A>C MANE Select | ENSP00000263321.4:p.Asn371Thr | |
ENST00000263321.5:c.1112A>C | ENSP00000263321.4:p.Asn371Thr | |
NM_000372.4:c.1112A>C | NP_000363.1:p.Asn371Thr | |
XM_011542970.1:c.1112A>C | XP_011541272.1:p.Asn371Thr | |
XM_011542970.2:c.1112A>C | XP_011541272.1:p.Asn371Thr | |
XR_001748321.1:n.2717+43562T>G | ||
XR_001748322.1:n.2732+43562T>G | ||
NM_000372.5:c.1112A>C MANE Select | NP_000363.1:p.Asn371Thr |