Linked Data
dbSNP Id:
rs11078597
gnomAD v2:
17-1618363-T-C
gnomAD v3:
17-1715069-T-C
gnomAD v4:
17-1715069-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1715069T>C , CM000679.2:g.1715069T>C | GRCh38 |
| NC_000017.10:g.1618363T>C , CM000679.1:g.1618363T>C | GRCh37 |
| NC_000017.9:g.1565113T>C | NCBI36 |
| NG_032811.1:g.3547T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_028502.1:n.144-1055A>G | ||
| NR_028503.1:n.144-1055A>G | ||
| NR_028504.1:n.144-616A>G | ||
| NR_028505.1:n.144-1055A>G |