gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00027651 (NFE)
Genomes Max Group AF
0.00015873 (NFE)
Exomes Max Group AF
0.000279 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14102246A>G , CM000679.2:g.14102246A>G | GRCh38 |
| NC_000017.10:g.14005563A>G , CM000679.1:g.14005563A>G | GRCh37 |
| NC_000017.9:g.13946288A>G | NCBI36 |
| NG_008034.1:g.37845A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.624+4A>G MANE Select | ENSP00000261643.3:n.624+4A>G | |
| ENST00000664217.1:c.624+4A>G | ENSP00000499396.1:n.624+4A>G | |
| ENST00000670279.1:c.624+4A>G | ENSP00000499450.1:n.624+4A>G | |
| ENST00000261643.7:c.624+4A>G | ENSP00000261643.3:n.624+4A>G | |
| ENST00000580561.1:c.*113+4A>G | ENSP00000462190.1:n.*113+4A>G | |
| ENST00000581931.5:c.499+25190A>G | ENSP00000462512.1:n.499+25190A>G | |
| NM_001303.3:c.624+4A>G | NP_001294.2:n.624+4A>G | |
| XM_005256458.1:c.624+4A>G | XP_005256515.1:n.624+4A>G | |
| XM_011523657.1:c.624+4A>G | XP_011521959.1:n.624+4A>G | |
| XM_011523658.1:c.48+25190A>G | XP_011521960.1:n.48+25190A>G | |
| XR_933974.1:n.727+4A>G | ||
| XR_933975.1:n.727+4A>G | ||
| NM_001303.4:c.624+4A>G MANE Select | NP_001294.2:n.624+4A>G |