HGVS | Genome Assembly |
---|---|
NC_000014.9:g.100883250G>C , CM000676.2:g.100883250G>C | GRCh38 |
NC_000014.8:g.101349587G>C , CM000676.1:g.101349587G>C | GRCh37 |
NC_000014.7:g.100419340G>C | NCBI36 |
NG_045001.1:g.6598C>G | |
NG_045000.5:g.51982G>C | |
NG_045000.6:g.51982G>C | |
NG_045001.2:g.25473C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649591.1:c.1539C>G MANE Select | ENSP00000497482.1:p.Ala513= | |
ENST00000534062.1:c.1539C>G | ENSP00000435342.1:p.Ala513= | |
NM_001134888.2:c.1539C>G | NP_001128360.1:p.Ala513= | |
NM_001134888.3:c.1539C>G MANE Select | NP_001128360.1:p.Ala513= |