HGVS | Genome Assembly |
---|---|
NC_000020.11:g.54650526A>C , CM000682.2:g.54650526A>C | GRCh38 |
NC_000020.10:g.53267065A>C , CM000682.1:g.53267065A>C | GRCh37 |
NC_000020.9:g.52700472A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262593.10:c.*47A>C MANE Select | ENSP00000262593.5:n.*47A>C | |
ENST00000262593.9:c.*47A>C | ENSP00000262593.5:n.*47A>C | |
ENST00000395939.5:c.*47A>C | ENSP00000379270.1:n.*47A>C | |
NM_018431.4:c.*47A>C | NP_060901.2:n.*47A>C | |
NM_177959.2:c.*47A>C | NP_808874.1:n.*47A>C | |
XM_011528903.1:c.*47A>C | XP_011527205.1:n.*47A>C | |
XM_011528904.1:c.*47A>C | XP_011527206.1:n.*47A>C | |
XM_024451946.1:c.*47A>C | XP_024307714.1:n.*47A>C | |
NM_018431.5:c.*47A>C MANE Select | NP_060901.2:n.*47A>C | |
NM_177959.3:c.*47A>C | NP_808874.1:n.*47A>C |