gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43061388 (EAS)
Genomes Max Group AF
0.38184341 (EAS)
Exomes Max Group AF
0.43599644 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99428309T>C , CM000666.2:g.99428309T>C | GRCh38 |
| NC_000004.11:g.100349466T>C , CM000666.1:g.100349466T>C | GRCh37 |
| NC_000004.10:g.100568489T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.260-135A>G MANE Select | ENSP00000414254.2:n.260-135A>G | |
| ENST00000209665.8:c.296-135A>G | ENSP00000209665.4:n.296-135A>G | |
| ENST00000437033.6:c.260-135A>G | ENSP00000414254.2:n.260-135A>G | |
| ENST00000474027.1:c.89-135A>G | ENSP00000420300.1:n.89-135A>G | |
| ENST00000476959.5:c.320-135A>G | ENSP00000420269.1:n.320-135A>G | |
| ENST00000482593.5:c.89-135A>G | ENSP00000420613.1:n.89-135A>G | |
| NM_000673.4:c.296-135A>G | NP_000664.2:n.296-135A>G | |
| NM_001166504.1:c.320-135A>G | NP_001159976.1:n.320-135A>G | |
| NM_000673.7:c.260-135A>G MANE Select | NP_000664.3:n.260-135A>G | |
| NM_001166504.2:c.320-135A>G | NP_001159976.1:n.320-135A>G |