HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169736867A>C , CM000663.2:g.169736867A>C | GRCh38 |
NC_000001.10:g.169706008A>C , CM000663.1:g.169706008A>C | GRCh37 |
NC_000001.9:g.167972632A>C | NCBI36 |
NG_012124.1:g.2213T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000498289.5:n.852-46944A>C (FIRRM) | ||
ENST00000609271.1:c.-201-2744T>G (SELE) | ENSP00000476784.1:n.-201-2744T>G |