HGVS | Genome Assembly |
---|---|
NC_000011.10:g.16735339A>C , CM000673.2:g.16735339A>C | GRCh38 |
NC_000011.9:g.16756886A>C , CM000673.1:g.16756886A>C | GRCh37 |
NC_000011.8:g.16713462A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000524520.5:n.353+1000T>G (SOX6) | ||
ENST00000525259.1:n.267+1000T>G (SOX6) | ||
ENST00000527893.5:n.405-9262A>C (C11orf58) | ||
ENST00000530378.5:c.-335+1000T>G (SOX6) | ENSP00000432577.1:n.-335+1000T>G | |
NM_001367872.1:c.-261+3086T>G (SOX6) | NP_001354801.1:n.-261+3086T>G |