Linked Data
dbSNP Id:
rs10772939
gnomAD v2:
12-16609038-T-C
gnomAD v3:
12-16456104-T-C
gnomAD v4:
12-16456104-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.16456104T>C , CM000674.2:g.16456104T>C | GRCh38 |
| NC_000012.11:g.16609038T>C , CM000674.1:g.16609038T>C | GRCh37 |
| NC_000012.10:g.16500305T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000538857.1:n.482+72500T>C | ||
| ENST00000539036.5:n.400+72500T>C | ||
| XR_001749030.1:n.9955T>C | ||
| XR_001749031.1:n.9758T>C |