gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39751255 (NFE)
Genomes Max Group AF
0.39751255 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.98987731T>C , CM000663.2:g.98987731T>C | GRCh38 |
| NC_000001.10:g.99453287T>C , CM000663.1:g.99453287T>C | GRCh37 |
| NC_000001.9:g.99225875T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696571.1:c.73-30990A>G | ENSP00000512726.1:n.73-30990A>G | |
| ENST00000263177.5:c.237+16704A>G MANE Select | ENSP00000263177.4:n.237+16704A>G | |
| ENST00000672681.1:c.237+16704A>G | ENSP00000500930.1:n.237+16704A>G | |
| ENST00000263177.4:c.237+16704A>G | ENSP00000263177.4:n.237+16704A>G | |
| ENST00000370188.7:c.237+16704A>G | ENSP00000359207.3:n.237+16704A>G | |
| NM_001010861.2:c.237+16704A>G | NP_001010861.1:n.237+16704A>G | |
| NM_001037317.1:c.237+16704A>G | NP_001032394.1:n.237+16704A>G | |
| XM_011540836.1:c.237+16704A>G | XP_011539138.1:n.237+16704A>G | |
| XM_011540837.1:c.237+16704A>G | XP_011539139.1:n.237+16704A>G | |
| XM_011540838.1:c.189+16704A>G | XP_011539140.1:n.189+16704A>G | |
| XM_011540839.1:c.189+16704A>G | XP_011539141.1:n.189+16704A>G | |
| XM_011540836.2:c.237+16704A>G | XP_011539138.1:n.237+16704A>G | |
| XM_011540838.3:c.189+16704A>G | XP_011539140.1:n.189+16704A>G | |
| NM_001037317.2:c.237+16704A>G MANE Select | NP_001032394.1:n.237+16704A>G | |
| NM_001010861.3:c.237+16704A>G | NP_001010861.1:n.237+16704A>G |