gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00205276 (MID)
Genomes Max Group AF
0.00007296 (SAS)
Exomes Max Group AF
0.00215775 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34240712G>A , CM000677.2:g.34240712G>A | GRCh38 |
| NC_000015.9:g.34532913G>A , CM000677.1:g.34532913G>A | GRCh37 |
| NC_000015.8:g.32320205G>A | NCBI36 |
| NG_007951.1:g.102353C>T , LRG_270:g.102353C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354181.8:c.2385C>T MANE Select | ENSP00000346112.3:p.Val795= | |
| ENST00000676379.1:c.2385C>T | ENSP00000502539.1:p.Val795= | |
| ENST00000290209.9:c.2232C>T | ENSP00000290209.5:p.Val744= | |
| ENST00000354181.7:c.2385C>T | ENSP00000346112.3:p.Val795= | |
| ENST00000397702.6:c.2208C>T | ENSP00000380814.2:p.Val736= | |
| ENST00000397707.6:c.2340C>T | ENSP00000380819.2:p.Val780= | |
| ENST00000458406.6:c.2208C>T | ENSP00000387725.2:p.Val736= | |
| ENST00000558589.5:c.2358C>T | ENSP00000452776.1:p.Val786= | |
| ENST00000558667.5:c.2385C>T | ENSP00000453473.1:p.Val795= | |
| ENST00000558950.1:n.333C>T | ||
| ENST00000559523.5:c.2208C>T | ENSP00000452904.1:p.Val736= | |
| ENST00000559664.5:c.2385C>T | ENSP00000453702.1:p.Val795= | |
| ENST00000560164.5:c.1821C>T | ENSP00000452705.1:p.Val607= | |
| ENST00000560611.5:c.2385C>T | ENSP00000454168.1:p.Val795= | |
| ENST00000561080.5:c.2385C>T | ENSP00000454069.1:p.Val795= | |
| NM_001042494.1:c.2208C>T | NP_001035959.1:p.Val736= | |
| NM_001042495.1:c.2208C>T | NP_001035960.1:p.Val736= | |
| NM_001042496.1:c.2358C>T | NP_001035961.1:p.Val786= | |
| NM_001042497.1:c.2340C>T | NP_001035962.1:p.Val780= | |
| NM_005135.2:c.2232C>T , LRG_270t1:c.2232C>T | NP_005126.1:p.Val744= | |
| NM_133647.1:c.2385C>T , LRG_270t2:c.2385C>T | NP_598408.1:p.Val795= | |
| XM_006720793.2:c.2238C>T | XP_006720856.1:p.Val746= | |
| XM_011522267.1:c.2385C>T | XP_011520569.1:p.Val795= | |
| XM_011522268.1:c.2385C>T | XP_011520570.1:p.Val795= | |
| XR_429476.2:n.2391C>T | ||
| XR_931960.1:n.2391C>T | ||
| XR_931961.1:n.2392C>T | ||
| NM_001365088.1:c.2385C>T MANE Select | NP_001352017.1:p.Val795= | |
| XM_006720793.4:c.2238C>T | XP_006720856.1:p.Val746= | |
| XR_931960.3:n.3635C>T | ||
| NM_001042494.2:c.2208C>T | NP_001035959.1:p.Val736= | |
| NM_001042495.2:c.2208C>T | NP_001035960.1:p.Val736= | |
| NM_001042496.2:c.2358C>T | NP_001035961.1:p.Val786= | |
| NM_001042497.2:c.2340C>T | NP_001035962.1:p.Val780= | |
| NM_133647.2:c.2385C>T | NP_598408.1:p.Val795= |