HGVS | Genome Assembly |
---|---|
NC_000012.12:g.108878275C>G , CM000674.2:g.108878275C>G | GRCh38 |
NC_000012.11:g.109272051C>G , CM000674.1:g.109272051C>G | GRCh37 |
NC_000012.10:g.107796180C>G | NCBI36 |
NG_023236.1:g.3195C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000548052.5:n.349-1288C>G | ||
ENST00000551281.5:c.-9-6723C>G | ENSP00000446853.1:n.-9-6723C>G |