gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30874982 (EAS)
Genomes Max Group AF
0.30874982 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80715103A>G , CM000679.2:g.80715103A>G | GRCh38 |
| NC_000017.10:g.78688903A>G , CM000679.1:g.78688903A>G | GRCh37 |
| NC_000017.9:g.76303498A>G | NCBI36 |
| NG_013034.1:g.175279A>G | |
| NG_013034.2:g.175279A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697423.1:c.561+7104A>G | ENSP00000513305.1:n.561+7104A>G | |
| ENST00000306801.8:c.507+7104A>G MANE Select | ENSP00000307272.3:n.507+7104A>G | |
| ENST00000649732.1:n.1263+7104A>G | ||
| ENST00000306801.7:c.507+7104A>G | ENSP00000307272.3:n.507+7104A>G | |
| ENST00000544334.6:c.507+7104A>G | ENSP00000442479.2:n.507+7104A>G | |
| ENST00000570891.5:c.507+7104A>G | ENSP00000460136.1:n.507+7104A>G | |
| ENST00000572733.1:n.182+5989A>G | ||
| ENST00000574767.5:c.*136+7104A>G | ENSP00000459701.1:n.*136+7104A>G | |
| ENST00000577161.5:n.1306+7104A>G | ||
| NM_001163034.1:c.507+7104A>G | NP_001156506.1:n.507+7104A>G | |
| NM_020761.2:c.507+7104A>G | NP_065812.1:n.507+7104A>G | |
| NM_020761.3:c.507+7104A>G MANE Select | NP_065812.1:n.507+7104A>G | |
| NM_001163034.2:c.507+7104A>G | NP_001156506.1:n.507+7104A>G |