Linked Data
dbSNP Id:
rs1996656
gnomAD v2:
12-102751962-A-G
gnomAD v3:
12-102358184-A-G
gnomAD v4:
12-102358184-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102358184A>G , CM000674.2:g.102358184A>G | GRCh38 |
| NC_000012.11:g.102751962A>G , CM000674.1:g.102751962A>G | GRCh37 |
| NC_000012.10:g.101276092A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_945270.1:n.581+9252A>G | ||
| XR_945271.1:n.581+9252A>G | ||
| XR_945272.1:n.581+9252A>G | ||
| XR_945273.1:n.531+42694A>G | ||
| XR_945274.1:n.257+9252A>G | ||
| XR_945275.1:n.137+9252A>G | ||
| XR_945277.1:n.581+9252A>G | ||
| XR_001749285.1:n.696+9252A>G | ||
| XR_001749286.1:n.257+9252A>G | ||
| XR_001749287.1:n.575+9252A>G |