HGVS | Genome Assembly |
---|---|
NC_000001.11:g.220836804T>C , CM000663.2:g.220836804T>C | GRCh38 |
NC_000001.10:g.221010146T>C , CM000663.1:g.221010146T>C | GRCh37 |
NC_000001.9:g.219076769T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651706.1:c.842+31530T>C | ENSP00000499157.1:n.842+31530T>C | |
NR_046901.1:n.293-3612A>G |