HGVS | Genome Assembly |
---|---|
NC_000001.11:g.1535567G>C , CM000663.2:g.1535567G>C | GRCh38 |
NC_000001.10:g.1470947G>C , CM000663.1:g.1470947G>C | GRCh37 |
NC_000001.9:g.1460810G>C | NCBI36 |
NG_041807.1:g.9794C>G | |
NG_053035.1:g.28425G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378733.9:c.373+22C>G MANE Select | ENSP00000368007.4:n.373+22C>G | |
ENST00000378733.8:c.373+22C>G | ENSP00000368007.4:n.373+22C>G | |
ENST00000425828.1:c.373+22C>G | ENSP00000400311.1:n.373+22C>G | |
NM_001114748.1:c.373+22C>G | NP_001108220.1:n.373+22C>G | |
NM_001114748.2:c.373+22C>G MANE Select | NP_001108220.1:n.373+22C>G |