gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001786 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00001593 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193236365C>T , CM000663.2:g.193236365C>T | GRCh38 |
| NC_000001.10:g.193205495C>T , CM000663.1:g.193205495C>T | GRCh37 |
| NC_000001.9:g.191472118C>T | NCBI36 |
| NG_012691.1:g.119408C>T , LRG_507:g.119408C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.1417+9C>T MANE Select | ENSP00000356405.4:n.1417+9C>T | |
| ENST00000635846.1:c.1174+9C>T | ENSP00000490035.1:n.1174+9C>T | |
| ENST00000643006.1:c.*327+9C>T | ENSP00000496633.1:n.*327+9C>T | |
| ENST00000648071.1:c.*1393+9C>T | ENSP00000497513.1:n.*1393+9C>T | |
| ENST00000649613.1:n.667+9C>T | ||
| ENST00000649895.1:n.1635+9C>T | ||
| ENST00000650197.1:c.1417+9C>T | ENSP00000496929.1:n.1417+9C>T | |
| ENST00000367435.3:c.1417+9C>T | ENSP00000356405.3:n.1417+9C>T | |
| ENST00000477868.1:n.129+3211C>T | ||
| NM_024529.4:c.1417+9C>T , LRG_507t1:c.1417+9C>T | NP_078805.3:n.1417+9C>T | |
| NM_024529.5:c.1417+9C>T MANE Select | NP_078805.3:n.1417+9C>T |