gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8725731 (EAS)
Genomes Max Group AF
0.8725731 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169116983A>G , CM000663.2:g.169116983A>G | GRCh38 |
| NC_000001.10:g.169086221A>G , CM000663.1:g.169086221A>G | GRCh37 |
| NC_000001.9:g.167352845A>G | NCBI36 |
| NG_023230.1:g.15275A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494797.2:c.58+5485A>G | ENSP00000477015.2:n.58+5485A>G | |
| ENST00000685155.1:c.58+5485A>G | ENSP00000508678.1:n.58+5485A>G | |
| ENST00000685762.1:c.58+5485A>G | ENSP00000508918.1:n.58+5485A>G | |
| ENST00000685792.1:c.58+5485A>G | ENSP00000508616.1:n.58+5485A>G | |
| ENST00000686702.1:c.58+5485A>G | ENSP00000509060.1:n.58+5485A>G | |
| ENST00000687182.1:n.73+660A>G | ||
| ENST00000687745.1:c.58+5485A>G | ENSP00000509323.1:n.58+5485A>G | |
| ENST00000688406.1:n.386+5485A>G | ||
| ENST00000688755.1:c.226+5485A>G | ENSP00000508725.1:n.226+5485A>G | |
| ENST00000689522.1:c.226+5485A>G | ENSP00000509039.1:n.226+5485A>G | |
| ENST00000690184.1:c.226+5485A>G | ENSP00000509517.1:n.226+5485A>G | |
| ENST00000691106.1:c.-134-7901A>G | ENSP00000508710.1:n.-134-7901A>G | |
| ENST00000691753.1:c.58+5485A>G | ENSP00000509877.1:n.58+5485A>G | |
| ENST00000691802.1:c.-268+5485A>G | ENSP00000510565.1:n.-268+5485A>G | |
| ENST00000692003.1:n.386+5485A>G | ||
| ENST00000367815.9:c.226+5485A>G MANE Select | ENSP00000356789.3:n.226+5485A>G | |
| ENST00000367815.8:c.226+5485A>G | ENSP00000356789.3:n.226+5485A>G | |
| ENST00000367816.5:c.226+5485A>G | ENSP00000356790.1:n.226+5485A>G | |
| ENST00000494797.1:c.58+5485A>G | ENSP00000477015.1:n.58+5485A>G | |
| NM_001677.3:c.226+5485A>G | NP_001668.1:n.226+5485A>G | |
| NM_001677.4:c.226+5485A>G MANE Select | NP_001668.1:n.226+5485A>G |