Linked Data
dbSNP Id:
rs1430073688
gnomAD v2:
8-19824591-T-G
gnomAD v3:
8-19967080-T-G
gnomAD v4:
8-19967080-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19967080T>G , CM000670.2:g.19967080T>G | GRCh38 |
| NC_000008.10:g.19824591T>G , CM000670.1:g.19824591T>G | GRCh37 |
| NC_000008.9:g.19868871T>G | NCBI36 |
| NG_008855.1:g.33010T>G | |
| NG_008855.2:g.70364T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.*1770T>G MANE Select | ENSP00000497642.1:n.*1770T>G | |
| ENST00000650478.1:c.2138T>G | ENSP00000497560.1:n.2138T>G | |
| ENST00000311322.8:c.*1770T>G | ENSP00000309757.6:n.*1770T>G | |
| NM_000237.2:c.*1770T>G | NP_000228.1:n.*1770T>G | |
| NM_000237.3:c.*1770T>G MANE Select | NP_000228.1:n.*1770T>G |