Linked Data
dbSNP Id:
rs11568070
gnomAD v2:
17-4545238-G-A
gnomAD v3:
17-4641943-G-A
gnomAD v4:
17-4641943-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4641943G>A , CM000679.2:g.4641943G>A | GRCh38 |
| NC_000017.10:g.4545238G>A , CM000679.1:g.4545238G>A | GRCh37 |
| NC_000017.9:g.4491987G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000570836.6:c.-25-267C>T | ENSP00000458832.1:n.-25-267C>T | |
| ENST00000570836.5:c.-25-267C>T | ENSP00000458832.1:n.-25-267C>T |