gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67884526 (EAS)
Genomes Max Group AF
0.67666297 (EAS)
Exomes Max Group AF
0.6771013 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197101646C>T , CM000663.2:g.197101646C>T | GRCh38 |
| NC_000001.10:g.197070776C>T , CM000663.1:g.197070776C>T | GRCh37 |
| NC_000001.9:g.195337399C>T | NCBI36 |
| NG_015867.1:g.50049G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2108-5482G>A | ||
| ENST00000367409.9:c.7605G>A MANE Select | ENSP00000356379.4:p.Val2535= | |
| ENST00000680265.1:c.7605G>A | ENSP00000505384.1:p.Val2535= | |
| ENST00000680710.1:c.7605G>A | ENSP00000506676.1:p.Val2535= | |
| ENST00000294732.11:c.4066-5482G>A | ENSP00000294732.7:n.4066-5482G>A | |
| ENST00000367408.5:c.1816-5482G>A | ENSP00000356378.1:n.1816-5482G>A | |
| ENST00000367409.8:c.7605G>A | ENSP00000356379.4:p.Val2535= | |
| ENST00000612785.1:c.1563G>A | ENSP00000479244.1:p.Val521= | |
| NM_001206846.1:c.4066-5482G>A | NP_001193775.1:n.4066-5482G>A | |
| NM_018136.4:c.7605G>A | NP_060606.3:p.Val2535= | |
| NM_018136.5:c.7605G>A MANE Select | NP_060606.3:p.Val2535= | |
| NM_001206846.2:c.4066-5482G>A | NP_001193775.1:n.4066-5482G>A |