dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22407415 (MID)
Genomes Max Group AF
0.1560389 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.100172688A>G , CM000673.2:g.100172688A>G | GRCh38 |
| NC_000011.9:g.100043420A>G , CM000673.1:g.100043420A>G | GRCh37 |
| NC_000011.8:g.99548630A>G | NCBI36 |
| NG_047156.1:g.1156713A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524871.6:c.1581-18438A>G MANE Select | ENSP00000435637.1:n.1581-18438A>G | |
| ENST00000279463.7:c.1533-18438A>G | ENSP00000279463.4:n.1533-18438A>G | |
| ENST00000418526.6:c.1359-18438A>G | ENSP00000393229.2:n.1359-18438A>G | |
| ENST00000524871.5:c.1581-18438A>G | ENSP00000435637.1:n.1581-18438A>G | |
| ENST00000527185.5:c.1581-18438A>G | ENSP00000433575.1:n.1581-18438A>G | |
| ENST00000528682.5:c.1581-18438A>G | ENSP00000436185.1:n.1581-18438A>G | |
| ENST00000528727.5:n.2085-18438A>G | ||
| ENST00000619298.1:c.1347-18438A>G | ENSP00000478120.1:n.1347-18438A>G | |
| NM_001243270.1:c.1581-18438A>G | NP_001230199.1:n.1581-18438A>G | |
| NM_001243271.1:c.1581-18438A>G | NP_001230200.1:n.1581-18438A>G | |
| NM_014361.3:c.1581-18438A>G | NP_055176.1:n.1581-18438A>G | |
| NM_175566.2:c.1359-18438A>G | NP_780775.1:n.1359-18438A>G | |
| XM_011542871.1:c.1359-18438A>G | XP_011541173.1:n.1359-18438A>G | |
| XM_011542872.1:c.1581-18438A>G | XP_011541174.1:n.1581-18438A>G | |
| XM_011542873.1:c.1581-18438A>G | XP_011541175.1:n.1581-18438A>G | |
| XM_017017926.1:c.1581-18438A>G | XP_016873415.1:n.1581-18438A>G | |
| XM_017017927.1:c.1581-18438A>G | XP_016873416.1:n.1581-18438A>G | |
| XM_017017928.1:c.1581-18438A>G | XP_016873417.1:n.1581-18438A>G | |
| XM_017017929.1:c.1359-18438A>G | XP_016873418.1:n.1359-18438A>G | |
| XR_001747909.1:n.2085-18438A>G | ||
| NM_014361.4:c.1581-18438A>G MANE Select | NP_055176.1:n.1581-18438A>G | |
| NM_001243270.2:c.1581-18438A>G | NP_001230199.1:n.1581-18438A>G | |
| NM_001243271.2:c.1581-18438A>G | NP_001230200.1:n.1581-18438A>G |