Linked Data
dbSNP Id:
rs11138290
gnomAD v2:
9-82163313-C-T
gnomAD v3:
9-79548398-C-T
gnomAD v4:
9-79548398-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.79548398C>T , CM000671.2:g.79548398C>T | GRCh38 |
| NC_000009.11:g.82163313C>T , CM000671.1:g.82163313C>T | GRCh37 |
| NC_000009.10:g.81353133C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_428556.2:n.135-16064G>A | ||
| XR_929978.1:n.135-16064G>A | ||
| XR_929979.1:n.139-16064G>A | ||
| XR_428556.3:n.140-16064G>A | ||
| XR_929978.2:n.140-16064G>A | ||
| XR_929979.2:n.144-16064G>A |