HGVS | Genome Assembly |
---|---|
NC_000003.12:g.8771602A>C , CM000665.2:g.8771602A>C | GRCh38 |
NC_000003.11:g.8813288A>C , CM000665.1:g.8813288A>C | GRCh37 |
NC_000003.10:g.8788288A>C | NCBI36 |
NG_008797.2:g.42793A>C , LRG_329:g.42793A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000472766.1:n.156-5875A>C (CAV3) | ||
XM_011533763.1:c.-238-3011T>G (OXTR) | XP_011532065.1:n.-238-3011T>G |