Linked Data
dbSNP Id:
rs144928727
ExAC:
10:96522527 A / G
gnomAD v2:
10-96522527-A-G
gnomAD v4:
10-94762770-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762770A>G , CM000672.2:g.94762770A>G | GRCh38 |
| NC_000010.10:g.96522527A>G , CM000672.1:g.96522527A>G | GRCh37 |
| NC_000010.9:g.96512517A>G | NCBI36 |
| NG_008384.2:g.5065A>G | |
| NG_008384.3:g.5090A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.65A>G MANE Select | ENSP00000360372.3:p.Gln22Arg | |
| ENST00000371321.7:c.65A>G | ENSP00000360372.3:p.Gln22Arg | |
| ENST00000464755.1:c.932-12288A>G | ENSP00000483243.1:n.932-12288A>G | |
| ENST00000480405.2:c.65A>G | ENSP00000483847.1:p.Gln22Arg | |
| NM_000769.2:c.65A>G | NP_000760.1:p.Gln22Arg | |
| NM_000769.4:c.65A>G MANE Select | NP_000760.1:p.Gln22Arg |