Linked Data
ClinVar Variation Id:
320116
dbSNP Id:
rs186471030
gnomAD v2:
16-58005002-T-C
gnomAD v3:
16-57971098-T-C
gnomAD v4:
16-57971098-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57971098T>C , CM000678.2:g.57971098T>C | GRCh38 |
| NC_000016.9:g.58005002T>C , CM000678.1:g.58005002T>C | GRCh37 |
| NC_000016.8:g.56562503T>C | NCBI36 |
| NG_016351.1:g.5019A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251102.13:c.-47A>G MANE Select | ENSP00000251102.8:n.-47A>G | |
| ENST00000251102.12:c.-47A>G | ENSP00000251102.8:n.-47A>G | |
| ENST00000311183.8:c.-47A>G | ENSP00000311670.4:n.-47A>G | |
| ENST00000564448.5:c.-47A>G | ENSP00000454633.1:n.-47A>G | |
| ENST00000567568.1:n.12A>G | ||
| NM_001135639.1:c.-47A>G | NP_001129111.1:n.-47A>G | |
| NM_001286130.1:c.-47A>G | NP_001273059.1:n.-47A>G | |
| NM_001297.4:c.-47A>G | NP_001288.3:n.-47A>G | |
| XM_006721134.2:c.-47A>G | XP_006721197.1:n.-47A>G | |
| NM_001135639.2:c.-47A>G | NP_001129111.1:n.-47A>G | |
| NM_001286130.2:c.-47A>G | NP_001273059.1:n.-47A>G | |
| NM_001297.5:c.-47A>G MANE Select | NP_001288.3:n.-47A>G |