HGVS | Genome Assembly |
---|---|
NC_000023.11:g.56565262G>C , CM000685.2:g.56565262G>C | GRCh38 |
NC_000023.10:g.56591695G>C , CM000685.1:g.56591695G>C | GRCh37 |
NC_000023.9:g.56608420G>C | NCBI36 |
NG_016249.1:g.6670G>C , LRG_665:g.6670G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000338222.7:c.1389G>C MANE Select | ENSP00000345195.5:p.Gln463His | |
ENST00000338222.6:c.1389G>C | ENSP00000345195.5:p.Gln463His | |
NM_013444.3:c.1389G>C , LRG_665t1:c.1389G>C | NP_038472.2:p.Gln463His | |
XM_011530837.1:c.273+1522G>C | XP_011529139.1:n.273+1522G>C | |
NM_013444.4:c.1389G>C MANE Select | NP_038472.2:p.Gln463His |