Linked Data
dbSNP Id:
rs1563409208
gnomAD v2:
8-11349202-T-C
gnomAD v3:
8-11491693-T-C
gnomAD v4:
8-11491693-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11491693T>C , CM000670.2:g.11491693T>C | GRCh38 |
| NC_000008.10:g.11349202T>C , CM000670.1:g.11349202T>C | GRCh37 |
| NC_000008.9:g.11386611T>C | NCBI36 |
| NG_023543.1:g.2682T>C | |
| NG_023543.2:g.2682T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696154.2:n.274+4526T>C | ||
| ENST00000696154.1:c.-91+4526T>C | ENSP00000512445.1:n.-91+4526T>C | |
| ENST00000645242.1:c.-91+4526T>C | ENSP00000494690.1:n.-91+4526T>C |