Linked Data
dbSNP Id:
rs566437327
gnomAD v2:
1-169705993-G-A
gnomAD v3:
1-169736852-G-A
gnomAD v4:
1-169736852-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169736852G>A , CM000663.2:g.169736852G>A | GRCh38 |
| NC_000001.10:g.169705993G>A , CM000663.1:g.169705993G>A | GRCh37 |
| NC_000001.9:g.167972617G>A | NCBI36 |
| NG_012124.1:g.2228C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498289.5:n.852-46959G>A (FIRRM) | ||
| ENST00000609271.1:c.-201-2729C>T (SELE) | ENSP00000476784.1:n.-201-2729C>T |