Linked Data
gnomAD v4:
2-232541529-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232541529A>G , CM000664.2:g.232541529A>G | GRCh38 |
| NC_000002.11:g.233406239A>G , CM000664.1:g.233406239A>G | GRCh37 |
| NC_000002.10:g.233114483A>G | NCBI36 |
| NG_012954.1:g.6803A>G | |
| NG_012954.2:g.6838A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.506A>G MANE Select | ENSP00000498757.1:p.Gln169Arg | |
| ENST00000389492.3:c.350+818A>G | ENSP00000374143.3:n.350+818A>G | |
| ENST00000389494.7:c.506A>G | ENSP00000374145.3:p.Gln169Arg | |
| ENST00000485094.1:n.527A>G | ||
| NM_005199.4:c.506A>G | NP_005190.4:p.Gln169Arg | |
| NM_005199.5:c.506A>G MANE Select | NP_005190.4:p.Gln169Arg |