HGVS | Genome Assembly |
---|---|
NC_000003.12:g.8771577T>G , CM000665.2:g.8771577T>G | GRCh38 |
NC_000003.11:g.8813263T>G , CM000665.1:g.8813263T>G | GRCh37 |
NC_000003.10:g.8788263T>G | NCBI36 |
NG_008797.2:g.42768T>G , LRG_329:g.42768T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000472766.1:n.156-5900T>G (CAV3) | ||
XM_011533763.1:c.-238-2986A>C (OXTR) | XP_011532065.1:n.-238-2986A>C |