HGVS | Genome Assembly |
---|---|
NC_000003.12:g.36993307A>C , CM000665.2:g.36993307A>C | GRCh38 |
NC_000003.11:g.37034798A>C , CM000665.1:g.37034798A>C | GRCh37 |
NC_000003.10:g.37009802A>C | NCBI36 |
NG_007109.2:g.4958A>C , LRG_216:g.4958A>C | |
NG_008418.1:g.4998T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673673.2:c.-241A>C | ENSP00000500979.2:n.-241A>C |