Linked Data
ClinVar Variation Id:
328827
ClinVar RCV Id:
RCV000264609
dbSNP Id:
rs886054337
gnomAD v2:
19-34012727-T-C
gnomAD v3:
19-33521821-T-C
gnomAD v4:
19-33521821-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33521821T>C , CM000681.2:g.33521821T>C | GRCh38 |
| NC_000019.9:g.34012727T>C , CM000681.1:g.34012727T>C | GRCh37 |
| NC_000019.8:g.38704567T>C | NCBI36 |
| NG_013358.1:g.5073A>G | |
| NG_013358.2:g.5073A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698361.1:c.-61A>G | ENSP00000513684.1:n.-61A>G | |
| ENST00000698362.1:c.-61A>G | ENSP00000513685.1:n.-61A>G | |
| ENST00000698363.1:n.3A>G | ||
| ENST00000698364.1:n.3A>G | ||
| ENST00000698365.1:n.3A>G | ||
| NM_000285.3:c.-61A>G | NP_000276.2:n.-61A>G | |
| NM_001166056.1:c.-61A>G | NP_001159528.1:n.-61A>G | |
| NM_001166057.1:c.-61A>G | NP_001159529.1:n.-61A>G |