Linked Data
dbSNP Id:
rs759733237
ExAC:
8:19818558 A / G
gnomAD v2:
8-19818558-A-G
gnomAD v3:
8-19961047-A-G
gnomAD v4:
8-19961047-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19961047A>G , CM000670.2:g.19961047A>G | GRCh38 |
| NC_000008.10:g.19818558A>G , CM000670.1:g.19818558A>G | GRCh37 |
| NC_000008.9:g.19862838A>G | NCBI36 |
| NG_008855.1:g.26977A>G | |
| NG_008855.2:g.64331A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.1286A>G MANE Select | ENSP00000497642.1:p.Gln429Arg | |
| ENST00000650478.1:c.226A>G | ENSP00000497560.1:n.226A>G | |
| ENST00000311322.8:c.1286A>G | ENSP00000309757.6:p.Gln429Arg | |
| NM_000237.2:c.1286A>G | NP_000228.1:p.Gln429Arg | |
| NM_000237.3:c.1286A>G MANE Select | NP_000228.1:p.Gln429Arg |