Linked Data
dbSNP Id:
rs1340754030
gnomAD v2:
11-16756910-C-A
gnomAD v3:
11-16735363-C-A
gnomAD v4:
11-16735363-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.16735363C>A , CM000673.2:g.16735363C>A | GRCh38 |
| NC_000011.9:g.16756910C>A , CM000673.1:g.16756910C>A | GRCh37 |
| NC_000011.8:g.16713486C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524520.5:n.353+976G>T (SOX6) | ||
| ENST00000525259.1:n.267+976G>T (SOX6) | ||
| ENST00000527893.5:n.405-9238C>A (C11orf58) | ||
| ENST00000530378.5:c.-335+976G>T (SOX6) | ENSP00000432577.1:n.-335+976G>T | |
| NM_001367872.1:c.-261+3062G>T (SOX6) | NP_001354801.1:n.-261+3062G>T |