Linked Data
dbSNP Id:
rs1035200598
gnomAD v2:
19-34012797-A-C
gnomAD v3:
19-33521891-A-C
gnomAD v4:
19-33521891-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33521891A>C , CM000681.2:g.33521891A>C | GRCh38 |
| NC_000019.9:g.34012797A>C , CM000681.1:g.34012797A>C | GRCh37 |
| NC_000019.8:g.38704637A>C | NCBI36 |
| NG_013358.1:g.5003T>G | |
| NG_013358.2:g.5003T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000285.3:c.-131T>G | NP_000276.2:n.-131T>G | |
| NM_001166056.1:c.-131T>G | NP_001159528.1:n.-131T>G | |
| NM_001166057.1:c.-131T>G | NP_001159529.1:n.-131T>G |