dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.64926179 (AFR)
Genomes Max Group AF
0.64926179 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.1492028A>G , CM000664.2:g.1492028A>G | GRCh38 |
| NC_000002.11:g.1495800A>G , CM000664.1:g.1495800A>G | GRCh37 |
| NC_000002.10:g.1474807A>G | NCBI36 |
| NG_011581.1:g.83566A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329066.9:c.1769-1774A>G MANE Select | ENSP00000329869.4:n.1769-1774A>G | |
| ENST00000329066.8:c.1769-1774A>G | ENSP00000329869.4:n.1769-1774A>G | |
| ENST00000345913.8:c.1769-1774A>G | ENSP00000318820.7:n.1769-1774A>G | |
| ENST00000346956.7:c.1769-1774A>G | ENSP00000263886.6:n.1769-1774A>G | |
| ENST00000382198.5:c.1250-1774A>G | ENSP00000371633.1:n.1250-1774A>G | |
| ENST00000382201.7:c.1598-1774A>G | ENSP00000371636.3:n.1598-1774A>G | |
| ENST00000422464.5:c.1556-1774A>G | ENSP00000405788.1:n.1556-1774A>G | |
| ENST00000446278.5:c.193-1774A>G | ||
| ENST00000462973.5:n.187-1774A>G | ||
| ENST00000469607.3:c.191-1774A>G | ENSP00000419461.1:n.191-1774A>G | |
| ENST00000497517.6:n.440-1774A>G | ||
| NM_000547.5:c.1769-1774A>G | NP_000538.3:n.1769-1774A>G | |
| NM_001206744.1:c.1769-1774A>G | NP_001193673.1:n.1769-1774A>G | |
| NM_001206745.1:c.1598-1774A>G | NP_001193674.1:n.1598-1774A>G | |
| NM_175719.3:c.1598-1774A>G | NP_783650.1:n.1598-1774A>G | |
| NM_175721.3:c.1769-1774A>G | NP_783652.1:n.1769-1774A>G | |
| NM_175722.3:c.1250-1774A>G | NP_783653.1:n.1250-1774A>G | |
| XM_011510379.1:c.1769-1774A>G | XP_011508681.1:n.1769-1774A>G | |
| XM_011510380.1:c.1769-1774A>G | XP_011508682.1:n.1769-1774A>G | |
| XM_011510381.1:c.1598-1774A>G | XP_011508683.1:n.1598-1774A>G | |
| XR_922681.1:n.1770-1774A>G | ||
| XM_011510380.3:c.1805-1774A>G | XP_011508682.2:n.1805-1774A>G | |
| XM_024453085.1:c.1805-1774A>G | XP_024308853.1:n.1805-1774A>G | |
| XM_024453086.1:c.1805-1774A>G | XP_024308854.1:n.1805-1774A>G | |
| XM_024453087.1:c.1769-1774A>G | XP_024308855.1:n.1769-1774A>G | |
| XM_024453088.1:c.1769-1774A>G | XP_024308856.1:n.1769-1774A>G | |
| XM_024453089.1:c.1769-1774A>G | XP_024308857.1:n.1769-1774A>G | |
| XM_024453090.1:c.1805-1774A>G | XP_024308858.1:n.1805-1774A>G | |
| XM_024453091.1:c.1634-1774A>G | XP_024308859.1:n.1634-1774A>G | |
| XM_024453092.1:c.1634-1774A>G | XP_024308860.1:n.1634-1774A>G | |
| XM_024453093.1:c.1286-1774A>G | XP_024308861.1:n.1286-1774A>G | |
| NM_001206744.2:c.1769-1774A>G MANE Select | NP_001193673.1:n.1769-1774A>G | |
| NM_000547.6:c.1769-1774A>G | NP_000538.3:n.1769-1774A>G | |
| NM_001206745.2:c.1598-1774A>G | NP_001193674.1:n.1598-1774A>G | |
| NM_175719.4:c.1598-1774A>G | NP_783650.1:n.1598-1774A>G |