Linked Data
dbSNP Id:
rs7125848
gnomAD v2:
11-5556055-T-C
gnomAD v3:
11-5534825-T-C
gnomAD v4:
11-5534825-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5534825T>C , CM000673.2:g.5534825T>C | GRCh38 |
| NC_000011.9:g.5556055T>C , CM000673.1:g.5556055T>C | GRCh37 |
| NC_000011.8:g.5512631T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380259.7:c.982+56000A>G | ENSP00000369609.3:n.982+56000A>G | |
| ENST00000380259.6:c.-565+56000A>G | ENSP00000369609.2:n.-565+56000A>G |