Linked Data
ClinVar Variation Id:
8051
dbSNP Id:
rs786200905
gnomAD v2:
11-47470726-T-C
gnomAD v3:
11-47449174-T-C
gnomAD v4:
11-47449174-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47449174T>C , CM000673.2:g.47449174T>C | GRCh38 |
| NC_000011.9:g.47470726T>C , CM000673.1:g.47470726T>C | GRCh37 |
| NC_000011.8:g.47427302T>C | NCBI36 |
| NG_008312.1:g.5005A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298854.6:c.-210A>G | ENSP00000298854.2:n.-210A>G | |
| NM_005055.4:c.-210A>G | NP_005046.2:n.-210A>G | |
| NM_032645.4:c.-210A>G | NP_116034.2:n.-210A>G |