gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00160229 (NFE)
Genomes Max Group AF
0.00171196 (NFE)
Exomes Max Group AF
0.0012515 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10377426C>T , CM000663.2:g.10377426C>T | GRCh38 |
| NC_000001.10:g.10437484C>T , CM000663.1:g.10437484C>T | GRCh37 |
| NC_000001.9:g.10360071C>T | NCBI36 |
| NG_008069.1:g.171721C>T , LRG_252:g.171721C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696502.1:c.*839C>T | ENSP00000512668.1:n.*839C>T | |
| ENST00000696503.1:c.*839C>T | ENSP00000512669.1:n.*839C>T | |
| ENST00000696504.1:c.*839C>T | ENSP00000512670.1:n.*839C>T | |
| ENST00000676179.1:c.*839C>T MANE Select | ENSP00000502065.1:n.*839C>T | |
| ENST00000263934.10:c.*839C>T | ENSP00000263934.6:n.*839C>T | |
| ENST00000377081.5:c.5409-913C>T | ENSP00000366284.1:n.5409-913C>T | |
| ENST00000377086.5:c.*839C>T | ENSP00000366290.1:n.*839C>T | |
| ENST00000620295.2:c.5367-913C>T | ENSP00000478500.1:n.5367-913C>T | |
| ENST00000622724.3:c.5331-913C>T | ENSP00000480063.1:n.5331-913C>T | |
| NM_015074.3:c.*839C>T , LRG_252t1:c.*839C>T | NP_055889.2:n.*839C>T | |
| NM_001365951.1:c.*839C>T | NP_001352880.1:n.*839C>T | |
| NM_001365952.1:c.*839C>T | NP_001352881.1:n.*839C>T | |
| NM_001365951.3:c.*839C>T MANE Select | NP_001352880.1:n.*839C>T |