Linked Data
dbSNP Id:
rs770564093
ExAC:
1:110151250 T / C
gnomAD v2:
1-110151250-T-C
gnomAD v3:
1-109608628-T-C
gnomAD v4:
1-109608628-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109608628T>C , CM000663.2:g.109608628T>C | GRCh38 |
| NC_000001.10:g.110151250T>C , CM000663.1:g.110151250T>C | GRCh37 |
| NC_000001.9:g.109952773T>C | NCBI36 |
| NG_009099.1:g.9456A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351050.8:c.461+3A>G (GNAT2) | ENSP00000251337.3:n.461+3A>G | |
| ENST00000679935.1:c.461+3A>G (GNAT2) MANE Select | ENSP00000505083.1:n.461+3A>G | |
| ENST00000351050.7:c.461+3A>G (GNAT2) | ENSP00000251337.3:n.461+3A>G | |
| ENST00000369851.5:c.*16306T>C (GNAI3) | ENSP00000358867.4:n.*16306T>C | |
| NM_005272.3:c.461+3A>G (GNAT2) | NP_005263.1:n.461+3A>G | |
| XM_011541264.1:c.461+3A>G (GNAT2) | XP_011539566.1:n.461+3A>G | |
| XM_011541265.1:c.461+3A>G (GNAT2) | XP_011539567.1:n.461+3A>G | |
| XM_011541266.1:c.461+3A>G (GNAT2) | XP_011539568.1:n.461+3A>G | |
| XM_011541264.2:c.461+3A>G (GNAT2) | XP_011539566.1:n.461+3A>G | |
| NM_001377295.1:c.461+3A>G (GNAT2) | NP_001364224.1:n.461+3A>G | |
| NM_005272.5:c.461+3A>G (GNAT2) | NP_005263.1:n.461+3A>G | |
| NM_001377295.2:c.461+3A>G (GNAT2) MANE Select | NP_001364224.1:n.461+3A>G | |
| NM_001379232.1:c.461+3A>G (GNAT2) | NP_001366161.1:n.461+3A>G |