HGVS | Genome Assembly |
---|---|
NC_000001.11:g.108875090A>G , CM000663.2:g.108875090A>G | GRCh38 |
NC_000001.10:g.109417712A>G , CM000663.1:g.109417712A>G | GRCh37 |
NC_000001.9:g.109219235A>G | NCBI36 |
NG_028108.1:g.3110A>G | |
NG_028108.2:g.4741A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000357393.6:c.1-25514T>C | ENSP00000349968.6:n.1-25514T>C | |
ENST00000357393.5:c.115-25514T>C | ENSP00000349968.5:n.115-25514T>C | |
XR_001738178.1:n.103+50T>C |