Linked Data
dbSNP Id:
rs1235308621
gnomAD v2:
10-96540178-A-G
gnomAD v3:
10-94780421-A-G
gnomAD v4:
10-94780421-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780421A>G , CM000672.2:g.94780421A>G | GRCh38 |
| NC_000010.10:g.96540178A>G , CM000672.1:g.96540178A>G | GRCh37 |
| NC_000010.9:g.96530168A>G | NCBI36 |
| NG_008384.2:g.22716A>G | |
| NG_008384.3:g.22741A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.482-78A>G MANE Select | ENSP00000360372.3:n.482-78A>G | |
| ENST00000645461.1:n.1535-78A>G | ||
| ENST00000371321.7:c.482-78A>G | ENSP00000360372.3:n.482-78A>G | |
| ENST00000464755.1:c.1245-78A>G | ENSP00000483243.1:n.1245-78A>G | |
| NM_000769.2:c.482-78A>G | NP_000760.1:n.482-78A>G | |
| NM_000769.4:c.482-78A>G MANE Select | NP_000760.1:n.482-78A>G |