HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169736942A>G , CM000663.2:g.169736942A>G | GRCh38 |
NC_000001.10:g.169706083A>G , CM000663.1:g.169706083A>G | GRCh37 |
NC_000001.9:g.167972707A>G | NCBI36 |
NG_012124.1:g.2138T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000498289.5:n.852-46869A>G (FIRRM) | ||
ENST00000609271.1:c.-201-2819T>C (SELE) | ENSP00000476784.1:n.-201-2819T>C |