HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6470979A>C , CM000674.2:g.6470979A>C | GRCh38 |
NC_000012.11:g.6580145A>C , CM000674.1:g.6580145A>C | GRCh37 |
NC_000012.10:g.6450406A>C | NCBI36 |
NG_042188.1:g.4921T>G | |
NG_042188.2:g.4921T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361716.7:c.-448T>G (VAMP1) | ENSP00000355122.3:n.-448T>G | |
XR_001748777.2:n.2246A>C (TAPBPL) | ||
XR_001748778.2:n.2243A>C (TAPBPL) |