HGVS | Genome Assembly |
---|---|
NC_000014.9:g.100883169T>G , CM000676.2:g.100883169T>G | GRCh38 |
NC_000014.8:g.101349506T>G , CM000676.1:g.101349506T>G | GRCh37 |
NC_000014.7:g.100419259T>G | NCBI36 |
NG_045001.1:g.6679A>C | |
NG_045000.5:g.51901T>G | |
NG_045000.6:g.51901T>G | |
NG_045001.2:g.25554A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649591.1:c.1620A>C MANE Select | ENSP00000497482.1:p.Pro540= | |
ENST00000534062.1:c.1620A>C | ENSP00000435342.1:p.Pro540= | |
NM_001134888.2:c.1620A>C | NP_001128360.1:p.Pro540= | |
NM_001134888.3:c.1620A>C MANE Select | NP_001128360.1:p.Pro540= |